Results 141 to 150 of about 343,621 (301)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 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
core  

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult

, 2014
Hilary A Enuh,1 Edward L Arsura,2 Zaza Cohen,3 Keith T Diaz,2 Jay M Nfonoyim,2 Phillip J Cosentino,2 Jessie K Saverimuttu4 1Department of Internal Medicine, Richmond University Medical Center, Staten Island, NY, USA; 2Pulmonary and Critical Care Medicine,
Cosentino PJ, Diaz KT, Nfonoyim JM, Arsura EL, Cohen Z, Saverimuttu JK, Enuh HA   +6 more
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

The outcome of pediatric patients undergoing congenital cardiac surgery under pulsatile cardiopulmonary bypass in different frequencies

, 2018
Guanhua Li,1,* Wen Jiang,2,* Yu Zhang,3,* Xiaohua Zhang,1 Jimei Chen,1 Jian Zhuang,1 Chengbin Zhou1 1Department of Cardiovascular Surgery, Guangdong Cardiovascular Institute, Guangdong Provincial Key Laboratory of South China Structural Heart Disease ...
Zhou CB, Chen J, Jiang W, Zhang Y, LI G, Zhang X, Zhuang J   +6 more
core  

Provincial variability in congenital heart disease prevalence in Argentina, 2014-2019: A population-based analysis from national registry data. [PDF]

PLOS Glob Public Health
Vita MC, Fantozzi N, Méndez Ortiz F, Di Lullo L, Kokal R, Peralta S, Di Lalla S.   +6 more
europepmc   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source