Genomes and Genes
Summary: The magnitude of INBREEDING in humans.
Publications316 found, 100 shown here
- Null mutations in LTBP2 cause primary congenital glaucomaManir 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...
- Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementAlejandro 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...
- Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screeningHardeep 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)...
- Mutations in PTF1A cause pancreatic and cerebellar agenesisGabrielle 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...
- Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79Atteeq 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...
- Genomic runs of homozygosity record population history and consanguinityMirna 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 ..
- Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizationsKarin 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...
- Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophyA Hameed
J Med Genet 40:616-9. 2003
- RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophyAlice 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...
- Genetic sperm defects and consanguinityB 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.
- A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosaAnneke 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...
- Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian familiesS 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.
- The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patientsDikla 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...
- Consanguinity and advanced maternal age as risk factors for reproductive losses in Alexandria, EgyptM M Mokhtar
Department of Huiman Genetics, Medical Research Institute, Alexandria University, Egypt
Eur J Epidemiol 17:559-65. 2001BACKGROUND: Consanguinity has been a long-standing social habit among Egyptians. Estimates of consanguinity ratios in different parts of Egypt ranged from 29 to 50%...
- Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosusSulaiman 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...
- A frameshift mutation in prominin (mouse)-like 1 causes human retinal degenerationM 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...
- A new era for preventive genetic programs in the Arabian PeninsulaAli 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...
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4K 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...
- CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patientsR Sitorus
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics, Klinikum, University of Regensburg, Germany
J Med Genet 40:e9. 2003
- Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseasesA 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...
- Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mappingH 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...
- Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82Tom 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...
- Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasiaLynn Adaimy
Unite de Genetique Medicale, Faculte de Medecine, Universite Saint Joseph de Beyrouth, Paris, France
Am J Hum Genet 81:821-8. 2007....
- Amelogenesis imperfecta and nephrocalcinosis syndrome: a case report and review of the literatureHercilio 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...
- Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani familiesS 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...
- The Druze: a population genetic refugium of the Near EastLiran 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...
- Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke 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...
- 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...
- Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreousS 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...
- Dominant modifier DFNM1 suppresses recessive deafness DFNB26S 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...
- Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23J 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...
- Case report of a rare syndrome associating amelogenesis imperfecta and nephrocalcinosis in a consanguineous familyL 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...
- Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosaChitra 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...
- Early detection of leprosy by examination of household contacts, determination of serum anti-PGL-1 antibodies and consanguinityRenata 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...
- Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani familiesS 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...
- Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaMohamed 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...
- Familial hypomagnesaemia--hypercalciuria leading to end-stage renal failureJ 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...
- Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosaShahbaz 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...
- KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromesAudrey 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...
- A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophyBen 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...
- Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1Leah 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...
- Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosisCaroline 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...
- Socio-demographic and consanguinity risk factors associated with low birthweightAbdulbari 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...
- Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop ReportHanan 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 ..
- Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani familiesShagufta 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...
- Consanguinity and the risk of congenital heart diseaseJoseph 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 ..
- Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven 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...
- Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, BrazilIsabel 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 ..
- Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafnessSaida 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...
- Pedigree reconstruction using identity by descentBonnie 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/...
- An association between the kinship and fertility of human couplesAgnar Helgason
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Science 319:813-6. 2008....
- 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...
- A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab familyAnan 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...
- Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian populationLatifa Chkioua
Laboratory of Biochemistry, Farhat Hached Hospital, 4000 Sousse, Tunisia
Diagn Pathol 6:113. 2011....
- Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in TunisiaS 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...
- A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi ArabiaNadia 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...
- Strategies for the prevention of hereditary diseases in a highly consanguineous populationB F Meyer
Aragene Laboratory, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
Ann Hum Biol 32:174-9. 2005Autosomal 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...
- Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: a hospital-based studyBahauddin 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....
- A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran 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...
- 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...
- Epidemiology of cleft lip and cleft palate in PakistanMohammed 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...
- Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian familyMounira 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.
- Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous familiesOscar 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...
- A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardationJoseph 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...
- Homozygosity mapping: one more tool in the clinical geneticist's toolboxFowzan S Alkuraya
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Genet Med 12:236-9. 2010b>Consanguinity increases the coefficient of inbreeding, which increases the likelihood of presence of pathogenic mutations in a homoallelic state...
- Mutations in PCDH21 cause autosomal recessive cone-rod dystrophyE 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...
- A homozygous mutation in LTBP2 causes isolated microspherophakiaArun 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...
- Mutations of optineurin in amyotrophic lateral sclerosisHirofumi 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...
- A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infectionJean 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...
- Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3S Brickwood
J Med Genet 40:685-9. 2003
- Mutation survey of known LCA genes and loci in the Saudi Arabian populationYumei 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...
- A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardationMohammad Mahdi Motazacker
Max Planck Institute for Molecular Genetics, Charite Universitatsmedizin Berlin, Berlin, Germany
Am J Hum Genet 81:792-8. 2007....
- The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardationL 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...
- Quantification of homozygosity in consanguineous individuals with autosomal recessive diseaseC 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.
- Molecular and clinical evaluation of primary congenital glaucoma in KuwaitSuad 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)...
- Regional variations in the prevalence of consanguinity in Saudi ArabiaMohammad I El-Mouzan
Department of Pediatrics, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia
Saudi Med J 28:1881-4. 2007To 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.
- Consanguinity and congenital heart disease in Saudi ArabiaS 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...
- Genetically heterogeneous selective intestinal malabsorption of vitamin B12: founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle EastStephan 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...
- Influence of parental and socioeconomic factors on stunting in children under 5 years in EgyptL 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...
- Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous familiesIan 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...
- Heritabilities, apolipoprotein E, and effects of inbreeding on plasma lipids in a genetically isolated population: the Erasmus Rucphen Family StudyAaron 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...
- The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosisLynn 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...
- Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophySibel 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...
- 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...
- Legacy of mutiny on the Bounty: founder effect and admixture on Norfolk IslandStuart 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...
- Parental consanguinity among parents of neonates with congenital hypothyroidism in IsfahanM 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...
- Genetics of primary glaucomaArif 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...
- Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disordersIan 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/...
- Consanguineous marriage in IranM 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...
- Poikiloderma with neutropenia, Clericuzio type, in a family from MoroccoRahima 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...
- Endogamy, consanguinity and community geneticsA 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...
- Parental consanguinity increases congenital heart diseases in South IndiaSmitha 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.
- Science and society: genetic counselling and customary consanguineous marriageBernadette Modell
Royal Free and University College Medical School, Highgate Hill, London N19 5LW, UK
Nat Rev Genet 3:225-9. 2002....
- Parental consanguinity and congenital heart malformations in a developing countryMona M Nabulsi
Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon
Am J Med Genet A 116:342-7. 2003The association between isolated congenital heart defects and consanguinity was examined in 759 Lebanese patients with different types of congenital heart malformations...
- 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 functionInbal 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...
- More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalitiesKatherine Small
Department of Pediatrics, NYU Medical Center, New York, New York 10016, USA
Lymphat Res Biol 6:39-44. 2008b>Consanguinity allows for the expression of rare genetic disorders...
- Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adultsA 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...
- Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosaMuhammad 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...
- 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. 2011Parental 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...
- American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testingCatherine 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...
- R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian familyF 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...
- International Conf on Alzheimer Disease and Related Disorders in the Middle EastChangiz 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...
- Gene Discovery in Familial KeratoconusYutao 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...
- Genetic Studies of Inner Ear AnomaliesMustafa Tekin; Fiscal Year: 2013..Parental consanguinity is present in 10 families, 3 of which are multiplex, providing strong evidence for autosomal recessive ..
- Fifth International Conference on Alzheimer's Disease in the MEChangiz 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...
- A Collaborative search for new genes for non-syndromic deafnessMustafa 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...
- Identification of Autosomal Recessive Nonsyndromic Hearing Impairment GenesSUZANNE 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 ..
- Characterization of a Mendelian Form of Psychosis in a Population IsolateHenriette 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...
- Developmental Mechanisms of Human Structural Brain DefectsJoseph 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...
- Multi-pronged genetic studies of schizophrenia in an inbred populationVISHWAJIT LAXMIKANT NIMGAONKAR; Fiscal Year: 2013..In the Nile delta region, we have found increased consanguinity among patients with SZ compared with unaffected controls...
- Symposium on Alzheimer's Disease in the Middle EastROBERT 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...
- Symposium on Alzheimer's Disease in the Middle EastROBERT 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...
- First International Symposium on Alzheimer's DiseaseROBERT 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...
- HOMOZYGOSITY MAPPING OF ORAL-FACIAL CLEFTS IN TURKEYMary 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...
- 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...
- GENETICS OF HEARING LOSS IN PALESTINIAN KINDREDSMary Claire King; Fiscal Year: 2002..In cultures with a tradition of consanguinity, rates of congenital hereditary hearing impairment may be much higher...
- Consanguinity and risk of Bipolar Disorder I in EgyptVishwajit 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...
- A PROGRAM FOR RAT GENE DISCOVERY AND MAPPINGVal Sheffield; Fiscal Year: 2001..Progress during the initial phase of this project resulted in unprecedented efficiency in gene discovery. ..
- Molecular Genetics of GlaucomaVal C Sheffield; Fiscal Year: 2010..Candidate genes for mutations screening will be identified using a combination of expression, functional and positional information. ..
- Multi-ethnic Genome-wide Alzheimer association studyLindsay A Farrer; Fiscal Year: 2010....
- THE CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2010....
- THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPSJoanna 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. ..
- THE GENETIC BASIS OF CHOLESTASISLaura Bull; Fiscal Year: 2009..abstract_text> ..
- Multiplexed Detection of Bioterror AgentsFrancis 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. ..
- Ichthyosis in Sjogren-Larsson SyndromeWilliam B Rizzo; Fiscal Year: 2010....
- Genetics of Familial Episodic AtaxiaJoanna 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. ..
- Epidemilogy of Parkinsonism in WeldersBrad 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. ..
- CREATION OF A DNA REPOSITORY TO IDENTIFY DEAFNESS GENESWalter Nance; Fiscal Year: 2004..abstract_text> ..
- Cystin, a lipid raft and cilia-associated protein in PKDLisa Guay Woodford; Fiscal Year: 2008..unreadable] [unreadable] [unreadable] [unreadable]..
- Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)Joanna C Jen; Fiscal Year: 2010..abstract_text> ..
- MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIAJoanna 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. ..
- GENETIC STUDIES OF NONSYNDROMIC DEAFNESSWalter 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. ..
- Hinxton Conference of Excellence - Dense Deposit Disease: Therapeutic OptionsRichard 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]..
- Gene Modifiers of Retinal DegenerationHENRY DANCIGER; Fiscal Year: 2009..This would make therapeutic approaches simpler. ..
- Identification of Disease Genes for Atrial FibrillationTimothy 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. ..
- FASEB Conference -PKD Mechanisms and Clinical ImpactLisa 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. ..
- Genetic analysis of congenital diaphragmatic herniaAnne Slavotinek; Fiscal Year: 2006..abstract_text> ..
- International Conference on Episodic Ataxia SyndromesJoanna Jen; Fiscal Year: 2005..abstract_text> ..
- Otosclerosis-A Molecular Genetic StudyRichard Smith; Fiscal Year: 2006....
- GENETICS OF PARKINSON DISEASE IN THE AMISHBrad Racette; Fiscal Year: 2006..abstract_text> ..
- Molecular basis of Joubert syndrome and related diseasesMelissa Parisi; Fiscal Year: 2007..abstract_text> ..
- Hinxton Retreat Workshop on Membranoproliferative Glomerulonephritis Type IIRichard Smith; Fiscal Year: 2006..unreadable] [unreadable]..
- Examination of the role of LPIN2 variations in skin and bone inflammationHatem El Shanti; Fiscal Year: 2007..Understanding the mechanisms behind psoriasis and CRMO is very important for the development of appropriate therapy. [unreadable] [unreadable] [unreadable]..
- Molecular networks: programming normal renal development and modeling disease patLisa 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]..
- Membranoproliferative Glomerulonephritis WorkshopRichard Smith; Fiscal Year: 2004..abstract_text> ..
- Genetics and Pharmacogenetics in FSGS (PPG Project 4)Lisa Guay Woodford; Fiscal Year: 2007..unreadable]..
- NEW METHODS FOR CANCER DETECTIONFrancis 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. ..
- TWO X-LINKED GENES THAT REGULATE MINERAL HOMEOSTASISMichael Whyte; Fiscal Year: 2002....
- International Consortium to Identify Genes and Interactions Controlling Oral ClefTerri Beaty; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Anaplerotic therapy in Propionic AcidemiaNicola 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]..
- Cloning a Blood Pressure Gene on Human Chromosome 2q32.3Nanette Steinle; Fiscal Year: 2008..These advances will impact substantially on the quality of life of millions of Americans. ..
- Functional Architecture of Developmental Brain DisorderBernard 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]..
- Regulation of P450c17 Lyase Activity in AdrenacheQing Dong; Fiscal Year: 2007..abstract_text> ..