Results 51 to 60 of about 4,210 (197)

TBX3‐ Related Disorder

American 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

An ITPR1 Variant in the IP3‐ITPR1 Binding Pocket Associated With a Clinical Phenotype of Athetoid Cerebral Palsy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz, Jagadish Chandrabose Sundaramurthi, Adam S. Arterbery, Anita M. Bagley, Michael A Gargano, Jeremy P Bauer, Daniel Danis, Philip Giampietro, Ellen Raney, Lauren Rekerle, Mallory Shingle, Jon R. Davids, Peter N. Robinson   +12 more
wiley   +1 more source

Dental signs attributed to congenital syphilis and its treatments in the Hamann-Todd Skeletal Collection

Anthropological Review, 2017
Syphilis in the United States during the 1800s and 1900s had a high prevalence rate causing great concern to health officials. Various measures were taken to control its spread. Mercuric treatments were used up until the introduction of penicillin.
Ioannou Stella, Henneberg Maciej
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

Lipopolysaccharide (LPS) introduction during growth and development period of rat’s tooth toward the occurrence of enamel hypoplasia

Dental Journal, 2007
The aim of this study is to know the effect of lipopoly saccharide (LPS) induction during growth and development period specifically the occurrence of hypoplasia on tooth enamel. 5 day old male wistar rats divided into two groups. Group 1 (control) under
Didin Erma Indahyani, Al-Supartinah Santoso, Totok Utoro, Marsetyawan HNE Soesatyo   +3 more
doaj   +1 more source

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

American 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, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Postnatal Amelioration of Fetal Right Ventricular Hypoplasia Associated with Large Eustachian Valve: A Case Report

American Journal of Perinatology Reports, 2019
In fetuses, the Eustachian valve directs oxygenated blood returning from the inferior vena cava into the left atrium via the foramen ovale. If too large, the Eustachian valve can restrict right ventricular inflow, as well as induce postnatal cyanosis via
Ayaka Iwatani, Fumihito Miyake, Hirotaka Ishido, Masayo Kanai, Akio Ishiguro, Yoichi Iwamoto, Kazuhiko Kabe, Satoshi Masutani   +7 more
doaj   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Hypoplasia of defunctioned rectum

Journal of British Surgery, 1989
Abstract The adaptive response of the large bowel to surgical defunction in man is essentially unknown, although in the rat there is progressive hypoplasia and a reduced propensity to experimental carcinogenesis. Mucosal biopsies were taken from the upper rectum completely defunctioned by a proximal stoma from 2 months to 5 years earlier
R. C. N. Williamson, G. V. N. Appleton
openaire   +3 more sources