American Journal of Medical Genetics

Publication Venue For
- Complex relationship between Parkin mutations and Parkinson disease (vol 114, pg 584, 2002). 114:992-992. 2002
- Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype.. 114:652-658. 2002
- No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network.. 114:667-672. 2002
- Complex relationship between Parkin mutations and Parkinson disease.. 114:584-591. 2002
- T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families.. 110:215-218. 2002
- Carrier testing in fragile X syndrome: when to tell and test.. 110:36-44. 2002
- Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome.. 109:133-138. 2002
- A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome.. 108:205-208. 2002
- Problem behavior in boys with fragile X syndrome.. 108:105-116. 2002
- Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.. 107:190-196. 2002
- Genomic screen and follow-up analysis for autistic disorder.. 114:99-105. 2002
- No association between the WNT2 gene and autistic disorder.. 114:106-109. 2002
- Influence of ADH1B polymorphism on alcohol use and its subjective effects in a Jewish population. 112:138-143. 2002
- Ring chromosome 6 in three fetuses: Case reports, literature review, and implications for prenatal diagnosis. 108:97-104. 2002
- Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency.. 104:169-173. 2001
- Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects.. 100:25-29. 2001
- De novo partial duplication of chromosome 7p in a male with autistic disorder.. 105:222-225. 2001
- Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.. 98:37-45. 2001
- Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.. 94:232-236. 2000
- Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred.. 93:320-327. 2000
- Carrier testing in fragile X syndrome: effect on self-concept.. 92:336-342. 2000
- Heterogeneity in Paget disease of the bone.. 92:303-307. 2000
- Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome.. 96:312-316. 2000
- Three probands with autistic disorder and isodicentric chromosome 15.. 96:365-372. 2000
- Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.. 92:229-236. 2000
- Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.. 96:43-48. 2000
- Autistic symptoms among children and young adults with isodicentric chromosome 15.. 96:128-129. 2000
- Family-based study of the association of the dopamine D2 receptor gene (DRD2) with habitual smoking. 90:299-302. 2000
- Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.. 87:331-338. 1999
- Clinical, cytogenetic, and fluorescence in situ hybridization findings in two cases of "complete ring" syndrome.. 87:384-390. 1999
- Detection of pericentric inversion of X chromosome in a male fetus.. 87:339-341. 1999
- Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?. 86:503-504. 1999
- Tyrosine hydroxylase polymorphism and phenotypic heterogeneity in bipolar affective disorder: a multicenter association study.. 88:527-532. 1999
- Partial duplication of 4q12q13 leads to a mild phenotype.. 86:51-53. 1999
- Cardiovascular malformations: changes in prevalence and birth status, 1972-1990.. 84:102-110. 1999
- Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: case report and review of triplications and their possible mechanism.. 82:312-317. 1999
- Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.. 82:206-211. 1999
- Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22.. 82:161-165. 1999
- Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.. 82:155-160. 1999
- Genetic mapping of a novel familial form of infantile hemangioma.. 82:77-83. 1999
- A further case of choanal atresia in the deletion (9p) syndrome.. 80:440. 1998
- Angelman syndrome: are the estimates too low?. 80:385-390. 1998
- Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families.. 80:377-384. 1998
- Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review.. 79:215-225. 1998
- Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. 78:192-194. 1998
- Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. 78:192-194. 1998
- Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13.. 77:285-288. 1998
- Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997.. 76:269-273. 1998
- Alzheimer diseases: a model of gene mutations and susceptibility polymorphisms for complex psychiatric diseases.. 81:49-57. 1998
- Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review.. 75:45-51. 1998
- XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.. 73:321-326. 1997
- Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect.. 73:119-124. 1997
- Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.. 71:489-493. 1997
- Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2.. 74:26-36. 1997
- Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.. 68:62-69. 1997
- Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region.. 68:244-248. 1997
- Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome. 65:27-35. 1996
- Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.. 65:27-35. 1996
- Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?. 64:546-550. 1996
- A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.. 64:278-282. 1996
- Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females. 64:256-260. 1996
- Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.. 64:256-260. 1996
- Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. 64:428-433. 1996
- Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.. 64:428-433. 1996
- An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.. 64:27-30. 1996
- X chromosome inactivation and X-linked mental retardation.. 64:21-26. 1996
- Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET.. 63:603-609. 1996
- Constellation of congenital abnormalities in an infant: A new syndrome or tissue-specific mosaicism for trisomy 18?. 62:38-41. 1996
- Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?. 62:38-41. 1996
- Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation. 61:182-187. 1996
- Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation.. 61:182-187. 1996
- Seventh International Workshop on the Fragile X and X-linked mental retardation. 64:1-14. 1996
- Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.. 59:444-453. 1995
- Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors.. 59:426-430. 1995
- Fryns syndrome survivors and neurologic outcome.. 59:334-340. 1995
- Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?. 59:44-48. 1995
- Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A.. 58:197-198. 1995
- Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia.. 60:307-311. 1995
- De novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization. 57:579-580. 1995
- Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL).. 57:344-347. 1995
- Role of subunit-9 of mitochondrial ATP synthase in Batten disease.. 57:350-360. 1995
- Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?. 57:22-26. 1995
- Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation.. 53:39-45. 1994
- Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire.. 51:364-369. 1994
- Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.. 51:294-297. 1994
- Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder.. 51:114-120. 1994
- Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.. 49:288-293. 1994
- Choanal atresia in a patient with the deletion (9p) syndrome.. 49:88-90. 1994
- Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization.. 47:1153-1156. 1993
- Fetal biometry in the Brachmann-de Lange syndrome.. 47:1035-1041. 1993
- Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization.. 47:223-230. 1993
- Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.. 44:24-30. 1992
- Pallister-Hall syndrome associated with an unbalanced chromosome translocation.. 43:647-650. 1992
- Abnormal behaviors of young girls with fragile X syndrome.. 43:72-77. 1992
- Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.. 43:61-64. 1992
- Evidence for processing of dolichol-linked oligosaccharides in patients with neuronal ceroid-lipofuscinosis.. 42:586-592. 1992
- Linkage analysis in juvenile neuronal ceroid lipofuscinosis.. 42:542-545. 1992
- Neurology of the neuronal ceroid-lipofuscinoses: late infantile and juvenile types.. 42:533-535. 1992
- Agonadism in a 46,XY patient with CHARGE association. 42:96-99. 1992
- Association of the Robin sequence with the fragile X syndrome.. 41:275-278. 1991
- Townes-Brocks syndrome in two mentally retarded youngsters.. 41:1-4. 1991
- VATER and hydrocephalus: distinct syndrome?. 38:46-51. 1991
- Comparison of direct and indirect methods of carrier detection in an X-linked disease.. 35:600-608. 1990
- Variant of atelosteogenesis? Report of a 20-week fetus.. 29:883-890. 1988
- Chorea-acanthocytosis: a report of three new families and implications for genetic counselling.. 28:403-410. 1987
- Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut.. 25:299-306. 1986
- Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome.. 22:599-608. 1985
- Familial spinocerebellar degeneration with corneal dystrophy.. 20:325-339. 1985
- Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family.. 20:295-306. 1985
- Perrault's syndrome in two sisters. 16:237-241. 1983
- Implications of normal lymphocyte DNA content in familial Alzheimer disease.. 15:511-513. 1983
- Age-of-onset heterogeneity in Huntington disease families.. 14:49-59. 1983
- Brief clinical report and review: the Marden-Walker syndrome.. 11:259-271. 1982
- Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis.. 5:57-67. 1980
- Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism.. 7:131-140. 1980
- Evidence for gene-gene interactions influencing susceptibility to autistic disorder 2004
- Mutation screening and SNP analysis of GABRB3 in a subset of autistic individuals 2004
- Neuropsychological function at age 13 and later schizophreniform disorder: A longitudinal birth cohort study 2004
- The genetics of AD/HD: Subtyping, comorbidity and developmental considerations 2004
- Linkage of autistic disorder to chromosome 15q11-q13 using phenotypic subtypes 2002
- Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann-de Lange syndrome. 1993

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