Results 151 to 160 of about 114,541 (285)

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes   +4 more
wiley   +1 more source

An annotated list of Symmachia Hübner, [1819] (Lepidoptera: Riodinidae: Symmachiini) from Parque Nacional da Serra do Divisor, Acre, Brazil, with the description of a new species [PDF]

open access: yes, 2013
We provide an illustrated list of species belonging to the genus Symmachia Hübner, [1819] (Lepidoptera: Riodinidae: Symmachiini) collected during an expedition conducted between September 10-21, 2011 in the northern part of the Parque Nacional da Serra ...
Casagrande, Mirna Martins   +4 more
core  

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas   +5 more
wiley   +1 more source

The Impact of the Parental Patterns of Morbidity and Comorbidity in the Cross‐Generational Transmission of Risk for Major Depression and Alcohol Use Disorder

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT To further understand the inter‐relationship of the familial transmission of major depression (MD) and alcohol use disorder (AUD), we examine, via a multivariable Cox proportional hazards model, risks for AUD and MD in 1,244,516 individuals born in Sweden from 1970 to 1990 to intact mother–father pairs as a function of parental diagnoses of MD
Kenneth S. Kendler   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy