consanguinity

Summary

Summary: The magnitude of INBREEDING in humans.

Top Publications

  1. pmc Null mutations in LTBP2 cause primary congenital glaucoma
    Manir Ali
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Am J Hum Genet 84:664-71. 2009
  2. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 90:102-9. 2012
  3. pmc Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    Hardeep Pal Singh
    Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
    Invest Ophthalmol Vis Sci 50:4065-71. 2009
  4. ncbi Mutations in PTF1A cause pancreatic and cerebellar agenesis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Nat Genet 36:1301-5. 2004
  5. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
  6. pmc Genomic runs of homozygosity record population history and consanguinity
    Mirna Kirin
    Centre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 5:e13996. 2010
  7. pmc Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
    Karin W Littink
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 51:5943-51. 2010
  8. pmc Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
    A Hameed
    J Med Genet 40:616-9. 2003
  9. ncbi RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
    Alice E Davidson
    University College London Institute of Ophthalmology, London, UK
    Hum Mutat 34:506-14. 2013
  10. ncbi Genetic sperm defects and consanguinity
    B Baccetti
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Applied Biology, University of Siena, Via T Pendola 62, 53100 Siena, Italy
    Hum Reprod 16:1365-71. 2001

Detail Information

Publications316 found, 100 shown here

  1. pmc Null mutations in LTBP2 cause primary congenital glaucoma
    Manir Ali
    Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK
    Am J Hum Genet 84:664-71. 2009
    ..These findings reveal that LTBP2 is essential for normal development of the anterior chamber of the eye, where it may have a structural role in maintaining ciliary muscle tone...
  2. pmc Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
    Alejandro Estrada-Cuzcano
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands
    Am J Hum Genet 90:102-9. 2012
    ..The two CRD siblings with the c.156-2A>G mutation also showed unilateral postaxial polydactyly. These results underline the importance of disrupted ciliary processes in the pathogenesis of retinal dystrophies...
  3. pmc Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
    Hardeep Pal Singh
    Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
    Invest Ophthalmol Vis Sci 50:4065-71. 2009
    ..To identify the disease-causing genes in families with autosomal recessive RP (ARRP)...
  4. ncbi Mutations in PTF1A cause pancreatic and cerebellar agenesis
    Gabrielle S Sellick
    Section of Cancer Genetics, Institute of Cancer Research, Surrey SM2 5NG, UK
    Nat Genet 36:1301-5. 2004
    ..The essential role of PTF1A in normal cerebellar development was confirmed by detailed neuropathological analysis of Ptf1a(-/-) mice...
  5. pmc Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79
    Atteeq Ur Rehman
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 86:378-88. 2010
    ..Although TPRN is expressed in many tissues, immunolocalization of the protein product in the mouse cochlea shows prominent expression in the taper region of hair cell stereocilia. Consequently, we named the protein taperin...
  6. pmc Genomic runs of homozygosity record population history and consanguinity
    Mirna Kirin
    Centre for Population Health Sciences, University of Edinburgh, Edinburgh, United Kingdom
    PLoS ONE 5:e13996. 2010
    ..populations have experienced a wide range of demographic histories and hold diverse cultural attitudes to consanguinity. In a global population dataset, genome-wide analysis of long and shorter ROH allows categorisation of the ..
  7. pmc Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations
    Karin W Littink
    The Rotterdam Eye Hospital, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 51:5943-51. 2010
    ..To determine the genetic defect and to describe the clinical characteristics in a cohort of mainly nonconsanguineous cone-rod dystrophy (CRD) patients...
  8. pmc Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
    A Hameed
    J Med Genet 40:616-9. 2003
  9. ncbi RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
    Alice E Davidson
    University College London Institute of Ophthalmology, London, UK
    Hum Mutat 34:506-14. 2013
    ..These findings imply an important and diverse role for RP1L1 in human retinal physiology and disease...
  10. ncbi Genetic sperm defects and consanguinity
    B Baccetti
    Department of Pediatrics, Obstetrics and Reproductive Medicine, Section of Applied Biology, University of Siena, Via T Pendola 62, 53100 Siena, Italy
    Hum Reprod 16:1365-71. 2001
    ..Among the subjects studied, we focused on a group of patients whose family histories revealed different degrees of consanguinity, in order to evaluate the relationship between consanguinity and particular sperm alterations.
  11. pmc A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
    Anneke I den Hollander
    Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 50:1864-72. 2009
    ..This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration...
  12. ncbi Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families
    S Laradi
    Mount Sinai School of Medicine, New York University, New York, NY 10029, USA
    J Inherit Metab Dis 28:1019-26. 2005
    ..The identification of these mutations and their genotype-phenotype correlations should facilitate prenatal diagnosis and counselling for MPS I in Tunisia, where a very high rate of consanguinity exists.
  13. ncbi The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients
    Dikla Bandah
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Arch Ophthalmol 127:297-302. 2009
    ..To evaluate the involvement of NR2E3 in inherited retinal degenerative diseases in the Israeli and Palestinian populations and to study phenotypic variability in patients who are homozygous for the same mutation...
  14. ncbi Consanguinity and advanced maternal age as risk factors for reproductive losses in Alexandria, Egypt
    M M Mokhtar
    Department of Huiman Genetics, Medical Research Institute, Alexandria University, Egypt
    Eur J Epidemiol 17:559-65. 2001
    BACKGROUND: Consanguinity has been a long-standing social habit among Egyptians. Estimates of consanguinity ratios in different parts of Egypt ranged from 29 to 50%...
  15. ncbi Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus
    Sulaiman M Al-Mayouf
    Rheumatology Section, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Nat Genet 43:1186-8. 2011
    ..The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis...
  16. ncbi A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration
    M A Maw
    Biochemistry Department, University of Otago, PO Box 56, Dunedin, New Zealand
    Hum Mol Genet 9:27-34. 2000
    ..These findings suggest that loss of prominin causes retinal degeneration, possibly because of impaired generation of the evaginations and/or impaired conversion of the evaginations to disks...
  17. ncbi A new era for preventive genetic programs in the Arabian Peninsula
    Ali N Al-Odaib
    Department of Genetics Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Saudi Med J 24:1168-75. 2003
    ..These preventive measures must take into account the social and cultural aspects...
  18. ncbi Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
    K Mykytyn
    Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa, 52242, USA
    Nat Genet 28:188-91. 2001
    ..The BBS2 protein has no significant similarity to other chaperonins or known proteins. Here we report the positional cloning and identification of mutations in BBS patients in a novel gene designated BBS4...
  19. pmc CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients
    R Sitorus
    Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum, University of Regensburg, Germany
    J Med Genet 40:e9. 2003
  20. pmc Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases
    A H Bittles
    Centre for Comparative Genomics, Murdoch University, South Street, Perth WA 6150, Australia
    Proc Natl Acad Sci U S A 107:1779-86. 2010
    ..Improving socioeconomic conditions and better access to health care will impact the effects of consanguinity, with a shift from infant and childhood mortality to extended morbidity...
  21. pmc Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping
    H M Harville
    Howard Hughes Medical Institute, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, 48109 5646, USA
    J Med Genet 47:262-7. 2010
    ..The vast genetic heterogeneity of BBS renders molecular genetic diagnosis difficult in terms of the time and cost required to screen all 204 coding exons...
  22. pmc Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
    Tom Walsh
    Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 87:90-4. 2010
    ..Identification of GPSM2 as essential to the development of normal hearing suggests dysregulation of cell polarity as a mechanism underlying hearing loss...
  23. pmc Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia
    Lynn Adaimy
    Unite de Genetique Medicale, Faculte de Medecine, Universite Saint Joseph de Beyrouth, Paris, France
    Am J Hum Genet 81:821-8. 2007
    ....
  24. ncbi Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literature
    Hercilio Martelli-Júnior
    Stomatology Clinic, Dental School, State University of Montes Claros, Brazil
    Nephron Physiol 118:p62-5. 2011
    ..Children with nephrocalcinosis should also be considered for a dental check...
  25. ncbi Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
    Mol Vis 12:1283-91. 2006
    ..To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families...
  26. pmc The Druze: a population genetic refugium of the Near East
    Liran I Shlush
    Ruth and Bruce Rappaport Faculty of Medicine and Research Institute, Technion Israel Institute of Technology, Haifa, Israel
    PLoS ONE 3:e2105. 2008
    ..Phylogenetic mitochondrial DNA haplogroups are highly partitioned across global geographic regions. A unique exception is the X haplogroup, which has a widespread global distribution without major regions of distinct localization...
  27. ncbi Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays
    Anneke I den Hollander
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Invest Ophthalmol Vis Sci 48:5690-8. 2007
    ..Thus far, mutations in 13 genes have been associated with autosomal recessive LCA and juvenile RP. The purpose of this study was to use homozygosity mapping to identify mutations in known LCA and juvenile RP genes...
  28. ncbi Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
    M A Kurian
    Department of Pediatric Neurology, Birmingham Children s Hospital, Birmingham, UK
    Neurology 70:1623-9. 2008
    ..Previously, children with PLA2G6 mutations have been diagnosed with several different disorders and we wished to better define the phenotype of PLA2G6- associated neurodegeneration...
  29. ncbi Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
    S Khaliq
    Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
    Invest Ophthalmol Vis Sci 42:2225-8. 2001
    ..All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens...
  30. ncbi Dominant modifier DFNM1 suppresses recessive deafness DFNB26
    S Riazuddin
    Laboratory of Molecular Genetics, NIDCD NIH, Rockville, Maryland, USA
    Nat Genet 26:431-4. 2000
    ..A dominant modifier, DFNM1, that suppresses deafness in the 7 nonpenetrant individuals was mapped to a 5.6-cM region on chromosome 1q24 with a lod score of 4.31 at theta=0 for D1S2815...
  31. pmc Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
    J M Bork
    Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA
    Am J Hum Genet 68:26-37. 2001
    ..A northern blot analysis of CDH23 showed a 9.5-kb transcript expressed primarily in the retina. CDH23 is also expressed in the cochlea, as is demonstrated by polymerase chain reaction amplification from cochlear cDNA...
  32. ncbi Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous family
    L M Paula
    Dental Anomalies Clinic, University Hospital of Brasilia, Department of Dentistry, Faculty of Health Science, University of Brasilia, SMDB Conjunto 29, Lote 3, Lago Sul, Brasilia 71680 290, DF, Brazil
    Arch Oral Biol 50:237-42. 2005
    ..The consanguineous marriage suggests an autosomal recessive mode of inheritance. Further studies are necessary to clarify the genetic defect behind this syndrome that associates AI, nephrocalcinosis and impaired tooth eruption...
  33. pmc Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa
    Chitra Kannabiran
    Kallam Anji Reddy Molecular Genetics Laboratory, Hyderabad Eye Research Foundation, Hyderabad, Andhra Pradesh, India
    Mol Vis 18:1165-74. 2012
    ..To identify genes underlying autosomal recessive retinitis pigmentosa (ARRP) by homozygosity mapping...
  34. ncbi Early detection of leprosy by examination of household contacts, determination of serum anti-PGL-1 antibodies and consanguinity
    Renata Bazan-Furini
    Divisão de Dermatologia, Faculdade de Medicina de Ribeirao Preto, Universidade de Sao Paulo, Ribeirao Preto, SP, Brasil
    Mem Inst Oswaldo Cruz 106:536-40. 2011
    ..b>Consanguinity with the patients was determined for 232 (72.5%) HHC. Of those 232 contacts, 183 had linear consanguinity...
  35. ncbi Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families
    S Amer Riazuddin
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
    Invest Ophthalmol Vis Sci 46:2264-70. 2005
    ..To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families...
  36. ncbi Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa
    Mohamed Ksantini
    INSERM 1051, Institute for Neurosciences of Montpellier, Montpellier, France
    Eur J Ophthalmol 22:647-53. 2012
    ..Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive retinitis pigmentosa families were genotyped to search for causative mutations...
  37. ncbi Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failure
    J C Nicholson
    Department of Nephrology, Royal Children s Hospital, Parkville, Victoria, Australia
    Pediatr Nephrol 9:74-6. 1995
    ..This condition is a previously unreported cause of end-stage renal failure in childhood, and this report suggests that transplantation from heterozygous parental donors can be successfully undertaken without recurrence of the syndrome...
  38. pmc Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa
    Shahbaz Ali
    National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
    Mol Vis 17:1373-80. 2011
    ..This study was designed to identify pathogenic mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families...
  39. pmc KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
    Audrey Putoux
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 43:601-6. 2011
    ..Our data show the role of KIF7 in human primary cilia, especially in the Hedgehog pathway through the regulation of GLI targets, and expand the clinical spectrum of ciliopathies...
  40. pmc A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy
    Ben Cohen
    The Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel
    Mol Vis 18:2915-21. 2012
    ..To investigate the genetic basis for autosomal recessive cone-rod dystrophy in a consanguineous Israeli Christian Arab family...
  41. pmc Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1
    Leah Rizel
    The Rappaport Family Institute for Research in the Medical Sciences, Haifa, Israel
    Mol Vis 17:3548-55. 2011
    ..This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families...
  42. ncbi Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis
    Caroline Lefèvre
    Centre National de Genotypage, Evry, France
    Hum Mol Genet 13:2473-82. 2004
    ..We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway...
  43. ncbi Socio-demographic and consanguinity risk factors associated with low birthweight
    Abdulbari Bener
    Department of Medical Statistics and Epidemiology, Hamad Medical Corporation, Hamad General Hospital, Qatar
    J Pak Med Assoc 63:598-603. 2013
    ..To examine socio-demographic and biological risk factors associated with mothers giving birth to a low birthweight newborn among Arab women in Qatar...
  44. ncbi Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report
    Hanan Hamamy
    Department of Genetic Medicine and Development, University of Geneva Medical School, and University Hospitals of Geneva, Geneva, Switzerland
    Genet Med 13:841-7. 2011
    ..A consanguinity study group of international experts and counselors met at the Geneva International Consanguinity Workshop ..
  45. pmc Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families
    Shagufta Naz
    National Centre of Excellence in Molecular Biology, Lahore 53700, Pakistan
    Br J Ophthalmol 95:1019-24. 2011
    ..To identify disease-causing mutations in two consanguineous Pakistani families with fundus albipunctatus...
  46. pmc Consanguinity and the risk of congenital heart disease
    Joseph T C Shieh
    Division of Medical Genetics, Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143, USA
    Am J Med Genet A 158:1236-41. 2012
    ..Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth ..
  47. pmc Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
    Steven E Boyden
    Program in Genomics, Division of Genetics, Children s Hospital Boston, Boston, MA, USA
    Neurogenetics 11:449-55. 2010
    ..Our data demonstrate that homozygosity mapping in consanguineous pedigrees offers a more efficient means of discovering mutations that cause heterogeneous disorders than comprehensive sequencing of known candidate genes...
  48. ncbi Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil
    Isabel Cristina Gonçalves Leite
    Department of Collective Health, School of Medicine, Federal University of Juiz de Fora, Minas Gerais, Brazil
    Braz Oral Res 23:31-7. 2009
    ..case-control study investigated the possible associations between family history of malformations, parental consanguinity, smoking and alcohol drinking and nonsyndromic orofacial cleft (OC, subdivided in 2 main groups: CL/P - cleft ..
  49. ncbi Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness
    Saida Ben Arab
    Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Sfax, Tunisie
    Genet Epidemiol 27:74-9. 2004
    ..geographic isolation, social traditions, and parental involvement in mode selection all contribute to increase consanguinity in these regions...
  50. ncbi Pedigree reconstruction using identity by descent
    Bonnie Kirkpatrick
    Electrical Engineering and Computer Sciences, University of California, Berkeley, California 94720, USA
    J Comput Biol 18:1481-93. 2011
    ..The two programs are available at http://cop.icsi.berkeley.edu/cop/...
  51. ncbi An association between the kinship and fertility of human couples
    Agnar Helgason
    deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
    Science 319:813-6. 2008
    ....
  52. ncbi Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)
    Peter Bauer
    Department of Medical Genetics, University of Tubingen, Tubingen, Germany
    Neurogenetics 13:73-6. 2012
    ..The mutant allele was absent in 316 Caucasian and 200 ethnically matched control chromosomes. We propose that AP4B1 mutations cause SPG47 and should be considered in early onset spastic paraplegia with intellectual disability...
  53. pmc A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family
    Anan H Abbasi
    Department of Genetics and The Rappaport Family Institute for Research in the Medical Sciences, Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Mol Vis 14:675-82. 2008
    ..To investigate the genetic basis for autosomal recessive severe early-onset retinitis pigmentosa (RP) in a consanguineous Israeli Muslim Arab family...
  54. pmc Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population
    Latifa Chkioua
    Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse, Tunisia
    Diagn Pathol 6:113. 2011
    ....
  55. ncbi Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia
    S Khedhiri
    Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse, Tunisia
    Pathol Biol (Paris) 57:392-7. 2009
    ..In the Hurler disease, the nervous system is particularly affected while in Morquio a disease, a skeletal dysplasia and a normal intelligence are characteristic...
  56. ncbi A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi Arabia
    Nadia M Fida
    Department of Pediatrics, King Abdulaziz University Hospital, PO Box 80215, Jeddah 21589, Kingdom of Saudi Arabia
    Saudi Med J 28:1367-73. 2007
    ..To estimate the incidence of major and minor congenital malformations among liveborn infants at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Estimation of risk factors were also evaluated...
  57. ncbi Strategies for the prevention of hereditary diseases in a highly consanguineous population
    B F Meyer
    Aragene Laboratory, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Ann Hum Biol 32:174-9. 2005
    Autosomal recessive hereditary diseases are relatively common in the Saudi population. The consanguinity rate is in excess of 50% and is a practice that remains strongly embedded within Saudi culture...
  58. ncbi Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: a hospital-based study
    Bahauddin I Sallout
    Women s Specialized Hospital and the Maternal Fetal Medicine and Ultrasound Unit, King Fahad Medical City, Riyadh, Saudi Arabia
    Ann Saudi Med 28:272-6. 2008
    ....
  59. pmc A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
    Ganeshwaran H Mochida
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 85:897-902. 2009
    ..This suggests essential roles of TRAPPC9 in human brain development, possibly through its effect on NF-kappaB activation and protein trafficking in the postmitotic neurons of the cerebral cortex...
  60. ncbi Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Ophthalmology 115:2262-5. 2008
    ..To document the phenotype and determine the genotype of a child with synergistic convergence...
  61. ncbi Epidemiology of cleft lip and cleft palate in Pakistan
    Mohammed Mehboob Elahi
    Division of Plastic and Reconstructive Surgery, Temple University, 1600 Arch Street, Suite 508, Philadelphia, PA 19103, USA
    Plast Reconstr Surg 113:1548-55. 2004
    ..It is hoped that this information can be used for appropriate resource use, cleft lip and cleft palate prevention programs, and counseling programs with Pakistan-specific data...
  62. pmc Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family
    Mounira Hmani-Aifa
    Unite Cibles pour le Diagnostic et la Therapie, Centre de Biotechnologie de Sfax, Tunisie
    Eur J Hum Genet 17:474-82. 2009
    ..This report presents an illustration of how consanguinity could increase familial clustering of multiple hereditary diseases within the same family.
  63. pmc Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families
    Oscar Rubio-Cabezas
    Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter EX2 5DW, United Kingdom
    J Clin Endocrinol Metab 94:4162-70. 2009
    ..We aimed to identify patients with WRS before any other abnormalities apart from diabetes are present and study the overall frequency of WRS among patients with permanent neonatal diabetes...
  64. pmc A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation
    Joseph J Higgins
    Center for Human Genetics and Child Neurology, Mid Hudson Family Health Institute, 279 Main St, Suite 203A, New Paltz, NY 12561, USA
    Neurology 63:1927-31. 2004
    ..Identifying the genetic factors that contribute to memory and learning is limited by the complexity of brain development and the lack of suitable human models for mild disorders of cognition...
  65. ncbi Homozygosity mapping: one more tool in the clinical geneticist's toolbox
    Fowzan S Alkuraya
    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
    Genet Med 12:236-9. 2010
    b>Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state...
  66. pmc Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
    E Ostergaard
    Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark
    J Med Genet 47:665-9. 2010
    ..It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance...
  67. ncbi A homozygous mutation in LTBP2 causes isolated microspherophakia
    Arun Kumar
    Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, 560012, India
    Hum Genet 128:365-71. 2010
    ..Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens...
  68. ncbi Mutations of optineurin in amyotrophic lateral sclerosis
    Hirofumi Maruyama
    Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima 734 8553, Japan
    Nature 465:223-6. 2010
    ..They also indicate that NF-kappaB inhibitors could be used to treat ALS and that transgenic mice bearing various mutations of OPTN will be relevant in developing new drugs for this disorder...
  69. pmc A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection
    Jean Pierre de Villartay
    Developpement Normal et Pathologique du Systeme Immunitaire, INSERM U429, Paris, France
    J Clin Invest 115:3291-9. 2005
    ..This observation extends the range of clinical and immunological phenotypes associated with RAG mutations, emphasizing the role of the genetic background and microbial environment in determining disease phenotype...
  70. pmc Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
    S Brickwood
    J Med Genet 40:685-9. 2003
  71. pmc Mutation survey of known LCA genes and loci in the Saudi Arabian population
    Yumei Li
    Departments of Molecular and Human Genetics
    Invest Ophthalmol Vis Sci 50:1336-43. 2009
    ..The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia...
  72. pmc A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation
    Mohammad Mahdi Motazacker
    Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Hum Genet 81:792-8. 2007
    ....
  73. pmc The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation
    L Basel-Vanagaite
    Department of Medical Genetics, Rabin Medical Centre, Beilinson Campus, Petah Tikva 49100, Israel
    J Med Genet 43:203-10. 2006
    ..Only two autosomal genes, the PRSS12 gene on chromosome 4q26 and the CRBN on chromosome 3p26, have been shown to cause autosomal recessive NSMR, each gene in only one family...
  74. pmc Quantification of homozygosity in consanguineous individuals with autosomal recessive disease
    C Geoffrey Woods
    Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
    Am J Hum Genet 78:889-96. 2006
    ..imply that prolonged parental inbreeding has led to a background level of homozygosity increased approximately 5% over and above that predicted by simple models of consanguinity. This has important clinical and research implications.
  75. ncbi Molecular and clinical evaluation of primary congenital glaucoma in Kuwait
    Suad Alfadhli
    Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Kuwait University, PO Box 31470 Sulaibekhat, Kuwait
    Am J Ophthalmol 141:512-6. 2006
    ..To report the spectrum of the CYP1B1 mutation in Kuwaiti patients with primary congenital glaucoma (PCG)...
  76. ncbi Regional variations in the prevalence of consanguinity in Saudi Arabia
    Mohammad I El-Mouzan
    Department of Pediatrics, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia
    Saudi Med J 28:1881-4. 2007
    To report on the prevalence of consanguinity in each region of the Kingdom of Saudi Arabia including the variation in prevalence between urban and rural settlements.
  77. ncbi Consanguinity and congenital heart disease in Saudi Arabia
    S M Becker
    Epidemiology Section, King Faisal Specialist Hospital and Research Center, MBC 03, P O Box 3354, Riyadh 11211, Saudi Arabia
    Am J Med Genet 99:8-13. 2001
    ..Data on first-cousin consanguinity and type of CHD diagnosis were collected...
  78. ncbi Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
    Stephan M Tanner
    Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
    Hum Mutat 23:327-33. 2004
    ..cases are typical examples of enrichment by founder effects, while in the Mediterranean region high degrees of consanguinity expose rare mutations in both genes...
  79. ncbi Influence of parental and socioeconomic factors on stunting in children under 5 years in Egypt
    L K Zottarelli
    Texas Woman s University, Texas, USA
    East Mediterr Health J 13:1330-42. 2007
    ..Parental consanguinity, rural residence, high birth order and short birth interval significantly increased the odds of stunting...
  80. ncbi Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families
    Ian M Carr
    Leeds Institute for Molecular Medicine, St James s University Hospital, University of Leeds, Leeds, United Kingdom
    Hum Mutat 27:1041-6. 2006
    ..Here, we describe AutoSNPa, a computer program used for handling and visually presenting large amounts of SNP data, in such a way as to facilitate the rapid identification and subsequent scrutiny of autozygous regions...
  81. pmc Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family Study
    Aaron Isaacs
    Department of Epidemiology and Biostatistics, Erasmus Medical Center, Postbus 1738, 3000 DR Rotterdam, The Netherlands
    Eur J Epidemiol 22:99-105. 2007
    ..02 and p (trend) = 0.05, respectively). These data provide estimates of lipid heritability unbiased due to selection and suggest that this population represents a good opportunity to localize novel genes influencing plasma lipid levels...
  82. pmc The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis
    Lynn Petukhova
    Department of Dermatology, School of Public Health, Columbia University, New York, N Y 10032, USA
    Hum Hered 68:117-30. 2009
    ..We suggest that the validity of the IBD assumption may be challenged in large consanguineous families...
  83. ncbi Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy
    Sibel Ugur Iseri
    Department of Physiology, Anatomy, and Genetics, University of Oxford, Le Gros Clark Building, South Parks Rd, Oxford, OX1 3QX, UK
    Hum Genet 128:51-60. 2010
    ..A further study of individuals with retinal degenerative conditions may reveal a causative role for heterozygous mutations in VSX2...
  84. ncbi A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
    M Jelani
    Department of Biochemistry, Faculty of Biological Sciences, Quaid i Azam University, Islamabad, Pakistan
    Clin Genet 74:184-8. 2008
    ..659-660delTA) causing frameshift and downstream premature termination codon. All the three mutations identified in the LIPH gene, including the one in this study, are deletion mutations...
  85. pmc Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk Island
    Stuart Macgregor
    Queensland Institute of Medical Research, Brisbane, QLD, Australia
    Eur J Hum Genet 18:67-72. 2010
    ..In conclusion, both founder effect and extreme admixture have substantially influenced the genetic architecture of a variety of CVD-related traits in this population...
  86. ncbi Parental consanguinity among parents of neonates with congenital hypothyroidism in Isfahan
    M Hashemipour
    Isfahan Endocrine and Metabolism Research Centre, Isfahan, Islamic Republic of Iran
    East Mediterr Health J 13:567-74. 2007
    ..There was a significant association between parental consanguinity and congenital hypothyroidism (P = 0...
  87. ncbi Genetics of primary glaucoma
    Arif O Khan
    Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
    Curr Opin Ophthalmol 22:347-55. 2011
    ..To provide an overview of the genetics of the primary open-angle glaucomas with particular attention to congenital, infantile, and juvenile forms...
  88. ncbi Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders
    Ian M Carr
    Division of Molecular and Translational Medicine, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
    Hum Mutat 30:1642-9. 2009
    ..SAMPLE is available at http://dna.leeds.ac.uk/sample/...
  89. ncbi Consanguineous marriage in Iran
    M Saadat
    Department of Biology, College of Sciences, Shiraz University, Iran
    Ann Hum Biol 31:263-9. 2004
    ..The aim of the present study was to determine the current prevalence and patterns of consanguinity in Iran as a means of assessing the associated requirement for genetic counselling services...
  90. ncbi Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco
    Rahima Mostefai
    Department of Pediatric Dermatology National Reference Center for Rare Skin Disorders, Pellegrin University Hospitals, Bordeaux, France
    Am J Med Genet A 146:2762-9. 2008
    ..It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome...
  91. ncbi Endogamy, consanguinity and community genetics
    A H Bittles
    Centre for Human Genetics, Edith Cowan University, 100 Joondalup Drive, Perth, WA 6027, Australia
    J Genet 81:91-8. 2002
    ..In contrast, the topic of consanguinity continues to attract attention among medical and population geneticists, clinicians and social scientists...
  92. ncbi Parental consanguinity increases congenital heart diseases in South India
    Smitha Ramegowda
    Department of Studies in Zoology, Human Genetics Laboratory, University of Mysore, Mysore, India
    Ann Hum Biol 33:519-28. 2006
    ..08 per 1000 live births. One of the risk factors for the occurrence of CHDs is parental consanguinity, in particular first-cousin marriage between parents.
  93. ncbi Science and society: genetic counselling and customary consanguineous marriage
    Bernadette Modell
    Royal Free and University College Medical School, Highgate Hill, London N19 5LW, UK
    Nat Rev Genet 3:225-9. 2002
    ....
  94. ncbi Parental consanguinity and congenital heart malformations in a developing country
    Mona M Nabulsi
    Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
    Am J Med Genet A 116:342-7. 2003
    The association between isolated congenital heart defects and consanguinity was examined in 759 Lebanese patients with different types of congenital heart malformations...
  95. ncbi A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function
    Inbal Lasry
    The Fred Wyszkowski Cancer Research Laboratory, Department of Biology, Technion Israel Institute of Technology, Haifa, Israel
    Blood 112:2055-61. 2008
    ..These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport...
  96. ncbi More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities
    Katherine Small
    Department of Pediatrics, NYU Medical Center, New York, New York 10016, USA
    Lymphat Res Biol 6:39-44. 2008
    b>Consanguinity allows for the expression of rare genetic disorders...
  97. ncbi Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults
    A Aghamohammadi
    Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
    J Investig Allergol Clin Immunol 20:372-9. 2010
    ..Common variable immunodeficiency (CVID) is a heterogeneous group of disorders with a wide range of clinical manifestations and immunological findings, which could possibly form the basis for classification into different phenotypes...
  98. pmc Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa
    Muhammad Ajmal
    Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan
    Mol Vis 18:1226-37. 2012
    ..To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families...
  99. ncbi Familial multiple sclerosis: does consanguinity have a role?
    M Al Jumah
    King Abdullah International Medical Research Center, KSAU HS, Riyadh, Saudi Arabia
    Mult Scler 17:487-9. 2011
    Parental consanguinity (PC) may be a risk factor for familial multiple sclerosis (FMS) throughout inbred communities. The objective of this report was to estimate prevalence of FMS and rate of PC among FMS versus non-FMS patients...
  100. ncbi American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
    Catherine W Rehder
    Duke University Health System, Durham, NC, USA
    Genet Med 15:150-2. 2013
    ..This article describes the detection of possible consanguinity by genomic testing and the factors confounding the inference of a specific p-arental relationship...
  101. ncbi R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family
    F Sina
    Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran
    Eur J Neurol 16:101-4. 2009
    ..In addition, novel mutations in PLA2G6 have recently been associated with dystonia-parkinsonism in two unrelated consanguineous families...

Research Grants53

  1. International Conf on Alzheimer Disease and Related Disorders in the Middle East
    Changiz Geula; Fiscal Year: 2013
    ..of dementia in the Middle East, a region with unique features valuable for research, including a high rate of consanguinity and smoking, relatively homogenous populations, and high fat diet...
  2. Gene Discovery in Familial Keratoconus
    Yutao Liu; Fiscal Year: 2013
    ..In our preliminary studies, we already collected 22 multiplex families from Saudi Arabia with a high degree of consanguinity. All the patients were screened for mutations in the two known genes...
  3. Genetic Studies of Inner Ear Anomalies
    Mustafa Tekin; Fiscal Year: 2013
    ..Parental consanguinity is present in 10 families, 3 of which are multiplex, providing strong evidence for autosomal recessive ..
  4. Fifth International Conference on Alzheimer's Disease in the ME
    Changiz Geula; Fiscal Year: 2009
    ..of dementia in the Middle East, a region with unique features valuable for research, including a high rate of consanguinity and smoking, relatively homogenous populations, and high fat diet...
  5. A Collaborative search for new genes for non-syndromic deafness
    Mustafa Tekin; Fiscal Year: 2013
    ..times and much of the population still lives in about 40,000 small villages throughout the country, where consanguinity is the cultural norm...
  6. Identification of Autosomal Recessive Nonsyndromic Hearing Impairment Genes
    SUZANNE MARGARET LEAL; Fiscal Year: 2013
    ..Therefore the Pakistani population is ideal to identify ARNSHI genes due to the high rates of consanguinity. To date we have ascertained 445 Pakistani families with ARNSHI which have undergone a genome scan and linkage ..
  7. Characterization of a Mendelian Form of Psychosis in a Population Isolate
    Henriette Raventos; Fiscal Year: 2013
    ..the family comes from an isolated population in a remote location in Costa Rica and there is known consanguinity in the pedigree...
  8. Developmental Mechanisms of Human Structural Brain Defects
    Joseph G Gleeson; Fiscal Year: 2013
    ..consisting of over 1500 human families with structural brain defects, highly enriched for first cousin consanguinity with multiple affected members...
  9. Multi-pronged genetic studies of schizophrenia in an inbred population
    VISHWAJIT LAXMIKANT NIMGAONKAR; Fiscal Year: 2013
    ..In the Nile delta region, we have found increased consanguinity among patients with SZ compared with unaffected controls...
  10. Symposium on Alzheimer's Disease in the Middle East
    ROBERT FRIEDLAND; Fiscal Year: 2005
    ..in Middle East populations, an area with unique features valuable for research, including a high rate of consanguinity, high fat diet, and smoking...
  11. Symposium on Alzheimer's Disease in the Middle East
    ROBERT FRIEDLAND; Fiscal Year: 2003
    ..in Middle East populations, an area with unique features valuable for research, including a high rate of consanguinity, high fat diet, and smoking...
  12. First International Symposium on Alzheimer's Disease
    ROBERT FRIEDLAND; Fiscal Year: 2001
    ..in Middle East populations an area with unique features valuable for research, including a high rate of consanguinity, high fat diet and smoking...
  13. HOMOZYGOSITY MAPPING OF ORAL-FACIAL CLEFTS IN TURKEY
    Mary Marazita; Fiscal Year: 2000
    ..inbred affected individuals are necessary to achieve a LOD score greater than 3, depending on the degree of consanguinity and the informativeness of the markers...
  14. RETINITIS PIGMENTOSA IN INDIA: MOLECULAR GENETIC STUDI*
    Chitra Kannabiran; Fiscal Year: 2004
    ..Recessive RP in India is frequently associated with consanguinity. The goal of this study is to identify the genetic bases for recessive RP in India...
  15. GENETICS OF HEARING LOSS IN PALESTINIAN KINDREDS
    Mary Claire King; Fiscal Year: 2002
    ..In cultures with a tradition of consanguinity, rates of congenital hereditary hearing impairment may be much higher...
  16. Consanguinity and risk of Bipolar Disorder I in Egypt
    Vishwajit Nimgaonkar; Fiscal Year: 2007
    ..Our preliminary studies have suggested that rates of parental consanguinity among BD1 patients in Egypt are elevated twofold in comparison with several sets of controls...
  17. A PROGRAM FOR RAT GENE DISCOVERY AND MAPPING
    Val Sheffield; Fiscal Year: 2001
    ..Progress during the initial phase of this project resulted in unprecedented efficiency in gene discovery. ..
  18. Molecular Genetics of Glaucoma
    Val C Sheffield; Fiscal Year: 2010
    ..Candidate genes for mutations screening will be identified using a combination of expression, functional and positional information. ..
  19. Multi-ethnic Genome-wide Alzheimer association study
    Lindsay A Farrer; Fiscal Year: 2010
    ....
  20. THE CARNITINE TRANSPORTER IN HUMAN DISEASE
    Nicola Longo; Fiscal Year: 2010
    ....
  21. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2009
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  22. THE GENETIC BASIS OF CHOLESTASIS
    Laura Bull; Fiscal Year: 2009
    ..abstract_text> ..
  23. Multiplexed Detection of Bioterror Agents
    Francis Barany; Fiscal Year: 2004
    ..In addition, the LDR/PCR virulence gene test from Aim 2 will be expanded to include the major BT toxin and virulence genes. Once verified, our tests will be validated with clinical samples at the CDC. ..
  24. Ichthyosis in Sjogren-Larsson Syndrome
    William B Rizzo; Fiscal Year: 2010
    ....
  25. Genetics of Familial Episodic Ataxia
    Joanna C Jen; Fiscal Year: 2010
    ..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
  26. Epidemilogy of Parkinsonism in Welders
    Brad A Racette; Fiscal Year: 2011
    ..The cohort assembled will provide unique opportunities for future research projects into gene-environment interactions and exposure related neuroimaging changes. ..
  27. CREATION OF A DNA REPOSITORY TO IDENTIFY DEAFNESS GENES
    Walter Nance; Fiscal Year: 2004
    ..abstract_text> ..
  28. Cystin, a lipid raft and cilia-associated protein in PKD
    Lisa Guay Woodford; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  29. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..abstract_text> ..
  30. MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIA
    Joanna Jen; Fiscal Year: 2002
    ..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
  31. GENETIC STUDIES OF NONSYNDROMIC DEAFNESS
    Walter Nance; Fiscal Year: 2001
    ..In addition, blood spots from all available students at the School for the Deaf in Ulaanbaatar will be screened for the mitochondrial mutation that is associated with sensitivity to streptomycin. ..
  32. Hinxton Conference of Excellence - Dense Deposit Disease: Therapeutic Options
    Richard Smith; Fiscal Year: 2008
    ..We will also publish the proceedings of this meeting and hope this publication will foster continued interest in developing DDD-specific therapies to treat patients with this disease. [unreadable] [unreadable] [unreadable]..
  33. Gene Modifiers of Retinal Degeneration
    HENRY DANCIGER; Fiscal Year: 2009
    ..This would make therapeutic approaches simpler. ..
  34. Identification of Disease Genes for Atrial Fibrillation
    Timothy Olson; Fiscal Year: 2009
    ..The long-term objectives of this work are to gain new insights into molecular mechanisms of arrhythmogenesis and to improve prediction, prevention, and treatment of AF. ..
  35. FASEB Conference -PKD Mechanisms and Clinical Impact
    Lisa Guay Woodford; Fiscal Year: 2005
    ..By allowing ample time for scientific exchanges and critical discussion, the conference will serve as a conduit for exploring new experimental ideas and fostering new research collaborations. ..
  36. Genetic analysis of congenital diaphragmatic hernia
    Anne Slavotinek; Fiscal Year: 2006
    ..abstract_text> ..
  37. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  38. Otosclerosis-A Molecular Genetic Study
    Richard Smith; Fiscal Year: 2006
    ....
  39. GENETICS OF PARKINSON DISEASE IN THE AMISH
    Brad Racette; Fiscal Year: 2006
    ..abstract_text> ..
  40. Molecular basis of Joubert syndrome and related diseases
    Melissa Parisi; Fiscal Year: 2007
    ..abstract_text> ..
  41. Hinxton Retreat Workshop on Membranoproliferative Glomerulonephritis Type II
    Richard Smith; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  42. Examination of the role of LPIN2 variations in skin and bone inflammation
    Hatem El Shanti; Fiscal Year: 2007
    ..Understanding the mechanisms behind psoriasis and CRMO is very important for the development of appropriate therapy. [unreadable] [unreadable] [unreadable]..
  43. Molecular networks: programming normal renal development and modeling disease pat
    Lisa Guay Woodford; Fiscal Year: 2007
    ..The meeting will be held in Pecs, Hungary from August 27-30, 2007, immediately preceding the 14th IPNA Congress in Budapest, Hungary (August 31- September 4, 2007). [unreadable] [unreadable] [unreadable]..
  44. Membranoproliferative Glomerulonephritis Workshop
    Richard Smith; Fiscal Year: 2004
    ..abstract_text> ..
  45. Genetics and Pharmacogenetics in FSGS (PPG Project 4)
    Lisa Guay Woodford; Fiscal Year: 2007
    ..unreadable]..
  46. NEW METHODS FOR CANCER DETECTION
    Francis Barany; Fiscal Year: 2007
    ..v) Develop a molecular classification of colon carcinogenesis, based upon genetic, epigenetic and mRNA expression profiling, and employ this taxonomy in predicting outcome or response to particular modes of therapy. ..
  47. TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASIS
    Michael Whyte; Fiscal Year: 2002
    ....
  48. International Consortium to Identify Genes and Interactions Controlling Oral Clef
    Terri Beaty; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  49. Anaplerotic therapy in Propionic Acidemia
    Nicola Longo; Fiscal Year: 2008
    ..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
  50. Cloning a Blood Pressure Gene on Human Chromosome 2q32.3
    Nanette Steinle; Fiscal Year: 2008
    ..These advances will impact substantially on the quality of life of millions of Americans. ..
  51. Functional Architecture of Developmental Brain Disorder
    Bernard Chang; Fiscal Year: 2008
    ..By combining training in these two areas, the candidate will gain the experience and skills necessary to transition to an independent career in clinical neuroscience research. [unreadable] [unreadable]..
  52. Regulation of P450c17 Lyase Activity in Adrenache
    Qing Dong; Fiscal Year: 2007
    ..abstract_text> ..