Results 81 to 90 of about 241,099 (281)
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Fetal lung lesions diagnosis: the crucial role of ultrasonography [PDF]
, 2009 Fetal lung lesions may cause significant effects of mass and may evolve into a non-immune hydrops and lead to the death of the fetus or the child. Treatment options for these severely affected infants are constantly evolving.
Maiello, Monica +7 more
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A Retrospective Analysis of Female Müllerian Duct Anomalies in Association With Congenital Renal Abnormalities [PDF]
, 2021 Study objective: Müllerian (paramesonephric) duct anomalies (MDAs) are associated with several coexisting congenital abnormalities, including renal abnormalities.
Goverde, Angelique J. +4 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
An audit of pelvi-ureteric junction obstruction at Red Cross Children's Hospital : a six year review
, 2010 Includes bibliographical references (leaves 49-57).Pelvi-ureteric junction obstruction is an important cause of congenital renal and urinary tract abnormality. It is the commonest cause of antenatally detected hydronephrosis.
Ocheke, Isaac Ejembi
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Congenital abnormalities in sheep
, 1965 More than 60 forms of abnormality have been found in lambs in Western Australia and in some flocks the proportion of particular abnormalities has been as high as 8 per cent, of lambs born. In this article Dr.
Dennis, Stanley M
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Lipoprotein(a) concentrations in adult congenital heart disease patients
, 2014 Introduction. Lipoprotein(a) (Lp(a)) contributes to the formation to atherosclerosis, promotes inflammation and stimulates prothrombotic processes. Methods.
Rodríguez-González, Fayna +1 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT WAGR spectrum disorder (WAGRSD) is an ultra‐rare congenital disorder caused by heterozygous deletion of chromosome 11p13. While classically associated with Wilms tumor, Aniridia, Genitourinary anomalies, and a Range of developmental delays, accurate delineation of the deletion is critical for prognosis because the phenotypic spectrum extends ...
Andrew M. George +11 more
wiley +1 more source