Results 61 to 70 of about 157,517 (293)

Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj  

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Not All Hereditary Iron Overload Is Hemochromatosis: A Case of Hereditary Xerocytosis Unmasked by Blood Smear Morphology

American Journal of Hematology, EarlyView.
María‐Angustias Molina‐Arrebola, Barbara J. Bain   +1 more
wiley   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Autosomal dominant polycystic kidney disease: updated perspectives

Therapeutics and Clinical Risk Management, 2019
Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A, Ameen KM, Al-Baghdadi M, Shaffer K, Nobakht N, Kamgar M, Lerma EV   +6 more
doaj  

Ein autosomal-dominantes Strukturmerkmal der menschlichen Iris [PDF]

, 1958
von P. J. Waardenburg
openalex   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Selective gamma-A-globulin deficiency, with dominant autosomal inheritance in a Swiss family. [PDF]

, 1968
Fabian Stöcker, P. Ammann, Ezequiel A. Rossi   +2 more
openalex   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source