American Journal of Medical Genetics Part A Journal

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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. 176:2172-2181. 2018
Parental education accounts for variability in the IQs of probands with Down syndrome: A longitudinal study. 176:29-33. 2018
Rare FMR1 gene mutations causing fragile X syndrome: A review. 176:11-18. 2018
A Familial 7q36.3 Duplication Associated with Agenesis of the Corpus Callosum. 167:2201-2208. 2015
High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome. 167:2154-2161. 2015
Immune mediated disorders in women with a fragile X expansion and FXTAS. 167:190-197. 2015
Methadone use in a male with theFMRIpremutation and FXTAS. 167:1354-1359. 2015
Association between macroorchidism and intelligence inFMR1premutation carriers. 164:2206-2211. 2014
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. 161:2321-2326. 2013
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. 161:771-778. 2013
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline. 161:1897-1903. 2013
Newborn screening and cascade testing forFMR1mutations. 161:59-69. 2013
Immune-mediated disorders among women carriers of fragile X premutation alleles. 158A:2473-2481. 2012
Hypertension inFMR1premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). 158A:1304-1309. 2012
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male. 158A:1221-1224. 2012
Reduced telomere length in individuals with FMR1 premutations and full mutations. 158A:1060-1065. 2012
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation. 155:519-525. 2011
Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy. 152A:1206-1212. 2010
Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms. 149A:2306-2310. 2009
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome. 149A:837-843. 2009
Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. 146A:1911-1916. 2008
Reduced telomere length in older men with premutation alleles of the fragile X mental retardation 1 gene. 146A:1543-1546. 2008
Expanded clinical phenotype of women with theFMR1 premutation. 146A:1009-1016. 2008
A girl with fragile X premutation from sperm donation. 146A:888-892. 2008
A quantitative assessment of tremor and ataxia inFMR1 premutation carriers using CATSYS. 146A:629-635. 2008
Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. 143A:2256-2260. 2007
Neuropathic features in fragile X premutation carriers. 143A:19-26. 2007
No evidence of paternal transmission of fragile X syndrome. 136A:107-108. 2005
Response to letter: “No evidence of paternal transmission of fragile X syndrome” by Doris and Peter Steinbach. 136A:109-110. 2005
Paternal transmission of fragile X syndrome. 129A:184-189. 2004
Are phonological processing deficits part of the broad autism phenotype?. 128B:54-60. 2004
Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis. 122A:13-23. 2003
Relationship of deficits ofFMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective. 118A:127-134. 2003
Association of polymorphisms of the estrogen receptor gene with anxiety-related traits in children and adolescents: A longitudinal study. 114:169-176. 2002
Application of robust pedigree analysis in studies of complex genotype-phenotype relationships in fragile X syndrome. 107:136-142. 2002
Association of a polymorphism of the dopamine transporter gene with externalizing behavior problems and associated temperament traits: A longitudinal study from infancy to the mid-teens. 105:346-350. 2001
Melatonin profiles and sleep characteristics in boys with fragile X syndrome: A preliminary study. 95:307-315. 2000
Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels ofFMR1 messenger RNA. 94:232-236. 2000
Clinical involvement and protein expression in individuals with theFMR1 premutation. 91:144-152. 2000
Transcription of the FMR1 gene in individuals with fragile X syndrome. 97:195-203. 2000
Fragile X syndrome and an isodicentric X chromosome in a woman with multiple anomalies, developmental delay, and normal pubertal development. 85:197-201. 1999
FMRP expression as a potential prognostic indicator in fragile X syndrome. 84:250-261. 1999
Strong similarities of theFMR1 mutation in multiple tissues: Postmortem studies of a male with a full mutation and a male carrier of a premutation. 84:240-244. 1999
Tissue heterogeneity of theFMR1 mutation in a high-functioning male with fragile X syndrome. 84:233-239. 1999
Compound heterozygous female with fragile X syndrome. 83:318-321. 1999
Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: A preliminary report. 83:268-279. 1999
Use of record linkage between a statewide genetics service and a birth defects/congenital malformations register to determine use of genetic counselling services. 72:3-10. 1997
Fragile X: Clinical associations. 64:413-414. 1996
Growth in stature in fragile X families: A mixed longitudinal study. 58:249-256. 1995
Transmitting males and carrier females in fragile X-revisited. 51:392-399. 1994
Effect of fragile X on physical and intellectual traits estimated by pedigree analysis. 46:415-422. 1993
Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy. 44:543-550. 1992
Problems in ascertainment of transmitting males in Martin-Bell syndrome. 41:410-416. 1991
Molecular study of parental origin of extra chromosome 21 in regular and de novo translocation trisomies. 7:125-128. 1990
Pericentric inversion of chromosome 9: Prevalence in 300 Down syndrome families and molecular studies of nondisjunction. 7:162-168. 1990
Potential gene sequence isolation and regional mapping in human chromosome 21. 7:120-124. 1990
Multivariate analysis of body shape in fragile X (Martin-Bell) syndrome. 33:200-208. 1989
Anthropometry in Martin-Bell syndrome. 30:149-164. 1988
Phenotypic variation in male-transmitted fragile X: Genetic inferences. 27:401-417. 1987