American Journal of Medical Genetics
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Publication Venue For
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Complex relationship between Parkin mutations and Parkinson disease (vol 114, pg 584, 2002).
114:992-992.
2002
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Investigation of Notch3 as a candidate gene for bipolar disorder using brain hyperintensities as an endophenotype..
114:652-658.
2002
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No evidence for linkage of liability to autism to HOXA1 in a sample from the CPEA network..
114:667-672.
2002
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Complex relationship between Parkin mutations and Parkinson disease..
114:584-591.
2002
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T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families..
110:215-218.
2002
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Carrier testing in fragile X syndrome: when to tell and test..
110:36-44.
2002
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A combination of physical examination and ECG detects the majority of hemodynamically significant heart defects in neonates with Down syndrome..
108:205-208.
2002
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Problem behavior in boys with fragile X syndrome..
108:105-116.
2002
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Genomic screen and follow-up analysis for autistic disorder..
114:99-105.
2002
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No association between the WNT2 gene and autistic disorder..
114:106-109.
2002
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Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency..
104:169-173.
2001
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Maternal homozygosity for the common MTHFR mutation as a potential risk factor for offspring with limb defects..
100:25-29.
2001
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De novo partial duplication of chromosome 7p in a male with autistic disorder..
105:222-225.
2001
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Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping..
98:37-45.
2001
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Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA..
94:232-236.
2000
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Clinical manifestations in a large hereditary hemorrhagic telangiectasia (HHT) type 2 kindred..
93:320-327.
2000
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Carrier testing in fragile X syndrome: effect on self-concept..
92:336-342.
2000
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Heterogeneity in Paget disease of the bone..
92:303-307.
2000
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Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome..
96:312-316.
2000
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Three probands with autistic disorder and isodicentric chromosome 15..
96:365-372.
2000
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Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males..
92:229-236.
2000
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Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder..
96:43-48.
2000
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Autistic symptoms among children and young adults with isodicentric chromosome 15..
96:128-129.
2000
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Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate..
87:331-338.
1999
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Dubowitz syndrome: a defect in the cholesterol biosynthetic pathway?.
86:503-504.
1999
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Partial duplication of 4q12q13 leads to a mild phenotype..
86:51-53.
1999
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Cardiovascular malformations: changes in prevalence and birth status, 1972-1990..
84:102-110.
1999
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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
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Parental attitudes regarding carrier testing in children at risk for fragile X syndrome..
82:206-211.
1999
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Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22..
82:161-165.
1999
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Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia..
82:155-160.
1999
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Genetic mapping of a novel familial form of infantile hemangioma..
82:77-83.
1999
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A further case of choanal atresia in the deletion (9p) syndrome..
80:440.
1998
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Angelman syndrome: are the estimates too low?.
80:385-390.
1998
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Retinoblastoma and Hirschsprung disease in a patient with interstitial deletion of chromosome 13..
77:285-288.
1998
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Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997..
76:269-273.
1998
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Variegated aneuploidy in two siblings: phenotype, genotype, CENP-E analysis, and literature review..
75:45-51.
1998
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XY sex reversal and gonadal dysgenesis due to 9p24 monosomy..
73:321-326.
1997
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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
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Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers..
68:62-69.
1997
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Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome..
65:27-35.
1996
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Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?.
64:546-550.
1996
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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
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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
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Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population..
64:428-433.
1996
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Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET..
63:603-609.
1996
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Constellation of congenital abnormalities in an infant: a new syndrome or tissue-specific mosaicism for trisomy 18?.
62:38-41.
1996
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Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation..
61:182-187.
1996
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Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia..
59:444-453.
1995
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Dissemination of genetic risk information to relatives in the fragile X syndrome: guidelines for genetic counselors..
59:426-430.
1995
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Fryns syndrome survivors and neurologic outcome..
59:334-340.
1995
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Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?.
59:44-48.
1995
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Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A..
58:197-198.
1995
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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
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Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire..
51:364-369.
1994
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Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28..
51:294-297.
1994
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Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder..
51:114-120.
1994
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Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma..
49:288-293.
1994
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Choanal atresia in a patient with the deletion (9p) syndrome..
49:88-90.
1994
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Fetal biometry in the Brachmann-de Lange syndrome..
47:1035-1041.
1993
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Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization..
47:223-230.
1993
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Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature..
44:24-30.
1992
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Pallister-Hall syndrome associated with an unbalanced chromosome translocation..
43:647-650.
1992
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Abnormal behaviors of young girls with fragile X syndrome..
43:72-77.
1992
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Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation..
43:61-64.
1992
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Association of the Robin sequence with the fragile X syndrome..
41:275-278.
1991
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Townes-Brocks syndrome in two mentally retarded youngsters..
41:1-4.
1991
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VATER and hydrocephalus: distinct syndrome?.
38:46-51.
1991
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Comparison of direct and indirect methods of carrier detection in an X-linked disease..
35:600-608.
1990
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Variant of atelosteogenesis? Report of a 20-week fetus..
29:883-890.
1988
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Chorea-acanthocytosis: a report of three new families and implications for genetic counselling..
28:403-410.
1987
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Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut..
25:299-306.
1986
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Microcephaly, hypergonadotropic hypogonadism, short stature, and minor anomalies: a new syndrome..
22:599-608.
1985
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Familial spinocerebellar degeneration with corneal dystrophy..
20:325-339.
1985
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Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family..
20:295-306.
1985
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Age-of-onset heterogeneity in Huntington disease families..
14:49-59.
1983
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Brief clinical report and review: the Marden-Walker syndrome..
11:259-271.
1982
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Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis..
5:57-67.
1980
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Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism..
7:131-140.
1980
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Evidence for gene-gene interactions influencing susceptibility to autistic disorder
2004
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Mutation screening and SNP analysis of GABRB3 in a subset of autistic individuals
2004
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Neuropsychological function at age 13 and later schizophreniform disorder: A longitudinal birth cohort study
2004
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The genetics of AD/HD: Subtyping, comorbidity and developmental considerations
2004
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Linkage of autistic disorder to chromosome 15q11-q13 using phenotypic subtypes
2002