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Results for American Journal of Medical Genetics: Pubmed ( 22,018 ) | Free Full Text ( 1,398 ) | U.S. Grants ( 0 )

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The effects of maternal weight gain patterns on term birth weight in African-American women.

J Matern Fetal Neonatal Med 2010,Aug,01;23(8):842-9; (PMID: 20632908)
[...]OBJECTIVE: The goals of our study were (1) to estimate the trends in maternal weight gain patterns and (2) to estimate the influence of variation in maternal weight and rate of [...] over different time periods in gestation on variation in birth weight in African-American and non-African-American gravidas. STUDY DESIGN AND SETTING: Data from a prospective cohort study in which pregnant women were monitored at multiple time points during [...]

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations.

Am J Med Genet A 2010,Aug,01;152A(8):2023-8; (PMID: 20635393)
The rate of malformations and major medical conditions in early childhood was analyzed in a single village according to the degree of relationship between the parents. In the village, 70-80% of the marriages are between descendants of the founders and therefore consanguineous.[...]

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

Am J Med Genet A 2010,Aug,01;152A(8):2127-9; (PMID: 20635401)

Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.

Am J Med Genet A 2010,Aug,01;152A(8):2057-60; (PMID: 20635354)
[...] was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition. (c) 2010 Wiley-Liss, Inc.

Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome.

Am J Med Genet A 2010,Aug,01;152A(8):2123-6; (PMID: 20635365)

New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.

Am J Med Genet A 2010,Aug,01;152A(8):1915-8; (PMID: 20602491)
We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell [...]

Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A(2) and prostacyclin.

Am J Med Genet A 2010,Aug,01;152A(8):1919-24; (PMID: 20583254)
[...] (PVOD); the pathophysiological mechanisms underlying the development of these complications are yet to be determined. To investigate the mechanisms, we evaluated the biosynthesis of thromboxane (TX) A(2) and [...]

Discordant phenotype and sterol biochemistry in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2010,Aug,01;152A(8):2094-8; (PMID: 20635399)
Smith-Lemli-Opitz syndrome (SLOS) is a malformation syndrome resulting from mutations of the 7-dehydrocholesterol reductase (DHCR7) gene. During cholesterol biosynthesis, DHCR7 catalyzes the conversion of [...]

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.

Am J Med Genet A 2010,Aug,01;152A(8):2034-8; (PMID: 20602489)
[...]Extra copies of the Prader-Willi-Angelman syndrome critical region (PWASCR) have been shown to have detrimental phenotypic effects depending on the parent of origin. Hexasomy for the PWASCR is rare; only 6 cases have been described to date. We report on a 15-year-old girl referred for [...]

Is there a better way to get consent for bloodspot use?

Am J Med Genet A 2010,Aug,01;152A(8):fmvii-fmviii; (PMID: 20662018)
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