Results 251 to 260 of about 714,661 (305)

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]

Biomed Rep
Singh KG, Moorthy A.
europepmc   +1 more source

Congenital short bowel syndrome: Clinical aspects by systematic review

JPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund, Susanne Schibli, Christiane Sokollik   +2 more
wiley   +1 more source

A Novel TP63 Missense Mutation in the Sumoylation Motif Causes Isolated Split-Hand/Foot Malformation 4: A Pedigree Report and Literature Review. [PDF]

Mol Genet Genomic Med
Yang W, Zhou J, Si N, Zhang X.
europepmc   +1 more source

Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation. [PDF]

Cureus
Faraz S, Nikhat F, Hayel Suleiman Beshtawi H, Malik SA, Yahya Hashim K.   +4 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.

J Clin Endocrinol Metab
Weng R, Li X, Yue H, Xu Y, Wei Z, Xu S, Li B, Zhang Z.   +7 more
europepmc   +1 more source

Case Report: <i>De novo USP9X</i> missense mutation in a male fetus with pulmonary atresia and ventricular septal defect: expanding the genotype-phenotype spectrum of <i>USP9X</i>-related disorders. [PDF]

Front Cardiovasc Med
Man T, Sun H, Hao X, Liu X, He Y.
europepmc   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source