J M Graham

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. ncbi request reprint A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
    John M Graham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Am J Med Genet A 123:37-44. 2003
  2. pmc GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Drive, Los Angeles, CA 90048, USA
    Eur J Med Genet 55:332-4. 2012
  3. pmc Klinefelter syndrome and other sex chromosomal aneuploidies
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Orphanet J Rare Dis 1:42. 2006
  4. ncbi request reprint Marshall J. Edwards: discoverer of maternal hyperthermia as a human teratogen
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Birth Defects Res A Clin Mol Teratol 73:857-64. 2005
  5. ncbi request reprint Gene-environment interactions in rare diseases that include common birth defects
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Birth Defects Res A Clin Mol Teratol 73:865-7. 2005
  6. pmc Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Am J Med Genet A 149:2122-8. 2009
  7. pmc Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
    Am J Med Genet A 152:2268-76. 2010
  8. ncbi request reprint Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
    John M Graham
    Department of Pediatrics, Medical Genetics Birth Defects Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 133:240-7. 2005
  9. pmc Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome)
    John M Graham
    Medical Genetics Institute at Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Med Genet C Semin Med Genet 154:477-85. 2010
  10. pmc Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
    J M Graham
    Medical Genetics Birth Defects Center, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA
    Am J Hum Genet 69:291-300. 2001

Detail Information

Publications56

  1. ncbi request reprint A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13
    John M Graham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA
    Am J Med Genet A 123:37-44. 2003
    ..Altered expression of Alpha 4, through either a change in translational efficiency, mRNA stability or splicing, could explain the clinical phenotype in these boys and the phenotypic overlap with Opitz GBBB syndrome...
  2. pmc GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Drive, Los Angeles, CA 90048, USA
    Eur J Med Genet 55:332-4. 2012
    ..Focused evaluation at age 21 revealed GLUT1 deficiency caused by a novel heterozygous missence mutation in exon 7 (c.938C > A; p.Ser313Try) in SLC2A1 as the cause for her disabilities...
  3. pmc Klinefelter syndrome and other sex chromosomal aneuploidies
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30033, USA
    Orphanet J Rare Dis 1:42. 2006
    ....
  4. ncbi request reprint Marshall J. Edwards: discoverer of maternal hyperthermia as a human teratogen
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Birth Defects Res A Clin Mol Teratol 73:857-64. 2005
    ..This special article reviews the scientific discoveries and personal philosophy of Marshall J. Edwards, the discoverer of maternal hyperthermia as a human teratogen...
  5. ncbi request reprint Gene-environment interactions in rare diseases that include common birth defects
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Birth Defects Res A Clin Mol Teratol 73:865-7. 2005
    ..The specific types of birth defects examined included cardiovascular defects, holoprosencephaly, clefts of the lip and/or palate, neural tube defects, and diaphragmatic hernias...
  6. pmc Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Am J Med Genet A 149:2122-8. 2009
    ..However, recurrent observations of NS in individuals with duplications involving the PTPN11 locus suggest that increased dosage of SHP2 may have dysregulating effects on intracellular signaling...
  7. pmc Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA
    Am J Med Genet A 152:2268-76. 2010
    ..We found no evidence of cerebellar dysgenesis on prenatal ultrasounds, but MRI tractography showed absence of pontine crossing fibers, a unique feature that might be useful for prenatal diagnosis of this condition...
  8. ncbi request reprint Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome
    John M Graham
    Department of Pediatrics, Medical Genetics Birth Defects Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 133:240-7. 2005
    ....
  9. pmc Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome)
    John M Graham
    Medical Genetics Institute at Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Am J Med Genet C Semin Med Genet 154:477-85. 2010
    ..They remain impulsive and can have aggressive outbursts when making the transition to adult life, but these challenges can be managed, as demonstrated by these clinical histories...
  10. pmc Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy
    J M Graham
    Medical Genetics Birth Defects Center, Cedars Sinai Medical Center, UCLA School of Medicine, Los Angeles, CA 90048, USA
    Am J Hum Genet 69:291-300. 2001
    ..This result strongly underlines the need for screening of patients with COFS syndrome, for either UV sensitivity or DNA-repair abnormalities...
  11. ncbi request reprint MICRO syndrome: an entity distinct from COFS syndrome
    John M Graham
    Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, SHARE s Child Disability Center, UCLA School of Medicine, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet A 128:235-45. 2004
    ....
  12. ncbi request reprint Female external genitalia on fetal magnetic resonance imaging
    S F Nemec
    Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Vienna, Austria
    Ultrasound Obstet Gynecol 38:695-700. 2011
    ..To characterize the normal development of the female external genitalia on fetal magnetic resonance imaging (MRI)...
  13. doi request reprint Penile biometry on prenatal magnetic resonance imaging
    S F Nemec
    Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Vienna, Austria
    Ultrasound Obstet Gynecol 39:330-5. 2012
    ..In view of the implementation of magnetic resonance imaging (MRI) as an adjunct to ultrasonography in prenatal diagnosis, this study sought to demonstrate normal penile growth on prenatal MRI...
  14. ncbi request reprint Male sexual development in utero: testicular descent on prenatal magnetic resonance imaging
    S F Nemec
    Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology, Medical University Vienna, Vienna, Austria
    Ultrasound Obstet Gynecol 38:688-94. 2011
    ..To visualize in utero male fetal testicular descent on magnetic resonance imaging (MRI) and to correlate it with gestational age...
  15. ncbi request reprint Clinical and behavioral characteristics in FG syndrome
    J M Graham
    Ahmanson Department of Pediatrics, UCLA University Affiliated Program, International Skeletal Dysplasia Registry, UCLA School of Medicine, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet 85:470-5. 1999
    ..On the Vineland Scales, FG boys demonstrated significant relative strengths in their socialization skills, consistent with their personality, tending to confirm previous descriptions of their personalities...
  16. ncbi request reprint Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene
    J M Graham
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, UCLA School of Medicine, Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet 77:322-9. 1998
    ....
  17. pmc A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis
    Mitchel J Pariani
    Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd, Los Angeles, CA 90048, USA
    Eur J Med Genet 52:123-7. 2009
    ..The roles of EIF4E3, PROK2 and GPR27 are also evaluated...
  18. ncbi request reprint Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
    Deborah Krakow
    Department of Obstetrics and Gynecology, Cedars Sinai Research Institute, and David Geffen School of Medicine at UCLA, Los Angeles, California, USA
    Nat Genet 36:405-10. 2004
    ..These data indicate an unexpected role in vertebral segmentation, joint formation and endochondral ossification for this ubiquitously expressed cytoskeletal protein...
  19. ncbi request reprint Bosma arhinia microphthalmia syndrome
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Department of Pediatrics, David Geffen School of Medicine at UCLA, USA
    Am J Med Genet A 140:189-93. 2006
    ..This report describes two sporadic unrelated cases of this rare syndrome and briefly reviews the findings in previously reported cases...
  20. ncbi request reprint Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans
    J M Graham
    Medical Genetics Birth Defects Center, UCLA School of Medicine, Cedars Sinai Medical Center, USA
    Teratology 58:209-21. 1998
    ..Thus, by reviewing the effects of hyperthermia in experimental animals, as well as malformative and protective mechanisms of teratogenesis, we have attempted to understand the effects of human hyperthermia teratogenesis...
  21. doi request reprint Abnormalities of the upper extremities on fetal magnetic resonance imaging
    S F Nemec
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA
    Ultrasound Obstet Gynecol 38:559-67. 2011
    ....
  22. ncbi request reprint Midline defects in FG syndrome: does tethered spinal cord contribute to the phenotype?
    Raymond Wang
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, 444 South San Vicente Boulevard 1001, Los Angeles, CA 90048, USA
    J Pediatr 146:537-41. 2005
    ..Because tethered spinal cord syndrome (TCS) has similar symptoms, we evaluated imaging for TCS in patients with FG syndrome...
  23. ncbi request reprint FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing
    Robin Dawn Clark
    Division of Medical Genetics, Department of Pediatrics, Loma Linda University Medical Center, Loma Linda, CA 92354, USA
    Genet Med 11:769-75. 2009
    ..This algorithm can assist the clinician in selecting the patients for testing who are most likely to have the recurrent p.R961W MED12 mutation...
  24. ncbi request reprint Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings
    Alison M Elliott
    International Skeletal Dysplasia Registry, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet 113:351-61. 2002
    ..The spectrum of disorders with tall vertebral bodies as a key feature may include different entities that may be further defined with the characterization of the molecular defect(s)...
  25. ncbi request reprint A previously unreported mutation in a Currarino syndrome kindred
    Raymond Y Wang
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 140:1923-30. 2006
    ..This family provides additional information on the degree of intrafamilial variability associated with HLXB9 mutations...
  26. ncbi request reprint Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients
    Robert L Conway
    Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet A 143:2981-3008. 2007
    ..One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM...
  27. pmc Fetal constraint as a potential risk factor for craniosynostosis
    Pedro A Sanchez-Lara
    Children s Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California 90027, USA
    Am J Med Genet A 152:394-400. 2010
    ....
  28. ncbi request reprint van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers
    Daniela N Schweitzer
    Department of Medical Genetics, Steven Spielberg Pediatric Research Center, Burns and Allen Research Institute, University of California, Los Angeles, California 90048, USA
    Am J Med Genet A 118:267-73. 2003
    ....
  29. pmc Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene
    John M Graham
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA
    Am J Med Genet A 146:3011-7. 2008
    ..Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome...
  30. ncbi request reprint A study of 534 fetal pathology cases from prenatal diagnosis referrals analyzed from 1989 through 2000
    Anna Laury
    Medical Genetics Institute, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California
    Am J Med Genet A 143:3107-20. 2007
    ..3 years). Our findings described below reiterate the clinical usefulness of a team specifically trained in the approach to fetal loss and/or fetal anomalies...
  31. ncbi request reprint Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case
    Daniela N Schweitzer
    Medical Genetics Birth Defects Center, Ahmanson Department of Pediatrics, Los Angeles, California 90048, USA
    Am J Med Genet A 120:400-5. 2003
    ..The mother of our patient manifests subtle features, which suggest she may be a mildly affected female. Additionally, there is a family history of early-onset alopecia in the maternal grandfather's relatives...
  32. ncbi request reprint Syndromic immunodeficiencies: genetic syndromes associated with immune abnormalities
    Jeffrey E Ming
    Department of Pediatrics, Division of Human Genetics and Molecular Biology, The Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Crit Rev Clin Lab Sci 40:587-642. 2003
    ..The finding of immune deficits in a number of defined syndromes with congenital anomalies suggests that an underlying genetic syndrome should be considered in those patients in whom a significant non-immune feature is present...
  33. ncbi request reprint Diagnosis and management of extensive vertex birth molding
    John M Graham
    Medical Genetics Institute, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, CA 90048, USA
    Clin Pediatr (Phila) 45:672-8. 2006
  34. ncbi request reprint A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
    Hiba Risheg
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Nat Genet 39:451-3. 2007
    ....
  35. ncbi request reprint The mutational spectrum of brachydactyly type C
    David B Everman
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Am J Med Genet 112:291-6. 2002
    ..These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5...
  36. ncbi request reprint Further delineation of Kabuki syndrome in 48 well-defined new individuals
    Linlea Armstrong
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 132:265-72. 2005
    ..Very recently, a microduplication of 8p has been described in multiple affected individuals, the proportion of individuals with the duplication is yet to be determined...
  37. ncbi request reprint An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
    Karina A Issekutz
    Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada
    Am J Med Genet A 133:309-17. 2005
    ....
  38. pmc Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
    Jennifer J Johnston
    National Institutes of Health, National Human Genome Research Institute, Bethesda, MD 20892 4472, USA
    Am J Hum Genet 76:609-22. 2005
    ..These results demonstrate a robust correlation of genotype and phenotype for GLI3 mutations and strongly support the hypothesis that these two allelic disorders have distinct modes of pathogenesis...
  39. ncbi request reprint CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years
    Lisa C Searle
    Medical Student, Dalhousie University, Nova Scotia, Canada
    Am J Med Genet A 133:344-9. 2005
    ..At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density...
  40. ncbi request reprint Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
    Ravi Savarirayan
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet A 117:136-42. 2003
    ..e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation...
  41. ncbi request reprint Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6
    Jeannie Visootsak
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Pediatr 145:819-25. 2004
    ..To describe clinical and behavioral features of 10 men from 2 families with Borjeson-Forssman-Lehmann syndrome (BFLS) and missense mutations in the PHF6 zinc-finger transcription factor gene...
  42. ncbi request reprint Graham Fraser Memorial Lecture 2002. From frogs' legs to pieds-noirs and beyond: some aspects of cochlear implantation
    John M Graham
    UCLH Cochlear Implant Programme, Royal National Throat Nose and Ear Hospital, London, UK
    J Laryngol Otol 117:675-85. 2003
    ..Lastly, looking to the future, the use of PET scanning to try and gain information about how the brain handles the information provided to it by a cochlear implant is described...
  43. pmc Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 78:303-14. 2006
    ..We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation...
  44. ncbi request reprint Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 118:260-6. 2003
    ..This screen sets upper limits on the length of a CHARGE-related microdeletion, should that be the genetic mechanism underlying the phenotype...
  45. pmc A locus for bilateral perisylvian polymicrogyria maps to Xq28
    Laurent Villard
    INSERM U491, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    Am J Hum Genet 70:1003-8. 2002
    ....
  46. ncbi request reprint 22q13 deletion syndrome: an update and review for the primary pediatrician
    Joaquim M Havens
    Harvard Medical School, Boston, MA, USA
    Clin Pediatr (Phila) 43:43-53. 2004
    ..The remainder of this article addresses the current state of knowledge regarding 22q13 deletion syndrome and offers the primary-care physician a framework in which to provide care and information...
  47. ncbi request reprint Fragile X syndrome: an update and review for the primary pediatrician
    Jeannie Visootsak
    Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA
    Clin Pediatr (Phila) 44:371-81. 2005
    ..Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members...
  48. ncbi request reprint Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
    Irene A Aligianis
    Section of Medical and Molecular Genetics, University of Birmingham, Birmingham, B15 2TT, UK
    Nat Genet 37:221-3. 2005
    ..We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors...
  49. ncbi request reprint A tribute to Bryan D. Hall: Festschrift 2003
    John C Carey
    Deparment of Pediatrics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
    Am J Med Genet A 123:1-4. 2003
  50. ncbi request reprint OptiPrep density gradient solutions for macromolecules and macromolecular complexes
    John M Graham
    School of Biomolecular Sciences, Liverpool John Moores University
    ScientificWorldJournal 2:1547-50. 2002
    ..This Protocol Article describes the strategies for the dilution of OptiPrep in order to prepare such solutions for mammalian cells...
  51. ncbi request reprint Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports
    Art Aylsworth
    Am J Med Genet A 119:93; discussion 94. 2003
  52. ncbi request reprint Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2
    Blake C Ballif
    Signature Genomic Laboratories, Spokane, Washington 99202, USA
    Nat Genet 39:1071-3. 2007
    ..2-p12.2 constitute a previously undescribed syndrome...
  53. ncbi request reprint Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay
    Wiktor Borozdin
    Praxis für Humangenetik, Freiburg, Germany
    Hum Mutat 28:830. 2007
    ..Since two of the four cases presented with choanal atresia, large deletions including SALL4 should be considered in the differential diagnosis of children with suspected CHARGE syndrome but without detectable CHD7 mutations...
  54. ncbi request reprint Prader-Willi syndrome: an update and review for the primary pediatrician
    Christina Chen
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    Clin Pediatr (Phila) 46:580-91. 2007
    ..They can also serve as a valuable source of support and advocacy for the family. This article reviews the current state of knowledge about Prader-Willi syndrome and discusses up-to-date understanding of the management of this condition...
  55. ncbi request reprint Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY
    Jeannie Visootsak
    Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA
    Am J Med Genet A 143:1198-203. 2007
    ..Both groups display interests in helping others, but have a low tolerance for being rejected or teased. Specific recommendations and interventional strategies are provided for individuals with 48,XXYY, 48,XXXY, and 49,XXXXY...
  56. ncbi request reprint Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1
    Nithiwat Vatanavicharn
    Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA
    Am J Med Genet A 143:2292-302. 2007
    ..No mutations were identified in the PAX1 and MEOX1 exons or flanking intronic sequences, excluding them as likely causative genes...