Results 41 to 50 of about 12,592,373 (135)

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

Beyond Skin and Eyes: The Medical and Social Burden of Oculocutaneous Albinism in Africa: A Narrative Review

JEADV Clinical Practice, EarlyView.
ABSTRACT Oculocutaneous albinism (OCA) is a genetic disorder found worldwide, but its impact is particularly pronounced in the African continent. This results from both a higher prevalence and the persistent myths and superstitions surrounding the condition in many African communities.
Rebecca Donadoni, Niccolò Capurro, Alessandro Svizzero, Valeria Brazzelli   +3 more
wiley   +1 more source

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss

Turkish Archives of Otorhinolaryngology, 2019
Objective:The aim of this study is to investigate the efficiency of a first-line molecular genetic evaluation approach, in children with deafness.Methods:Patients who were found to have sensorineural hearing loss by age-appropriate audiological tests ...
Berk Özyılmaz, Gül Caner Mercan, Özgür Kırbıyık, Taha Reşid Özdemir, Samira Özkara, Özge Özer Kaya, Yaşar Bekir Kutbay, Kadri Murat Erdoğan, Merve Saka Güvenç, Altuğ Koç   +9 more
doaj   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang, Na Hao, Xiya Zhou, Yan Lü, Mengmeng Li, Kaili Yin, Xueting Yang, Hanzhe Zhang, Yukun Ma, Yanqin You, Qingwei Qi, Yulin Jiang   +11 more
wiley   +1 more source

Usher syndrome‐related visual impairment in Finland: A 35‐year nationwide register‐based study (1985–2019)

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate visual impairment (VI) associated with Usher syndrome (USH), a syndromic form of retinitis pigmentosa. Methods This register‐based study used data from the Register of the Finnish Federation for Visual Impairment for persons registered with USH‐related VI from 1985 to 2019.
Rasha Sameer Moustafa, Paula Mosallaei, Petri Purola, Laura Impiö, Mika Gissler, Hannu Uusitalo   +5 more
wiley   +1 more source

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations. [PDF]

, 2019
BACKGROUND: Autosomal recessive non-syndromic hearing loss (ARNSHL), one of the global public health concerns, is marked by a high degree of genetic heterogeneity. The role of GJB2, as the most common cause of ARNSHL, is only
Koohiyan, Mahboobeh, Salehi, Mansour, Abtahi, Hamidreza, Azadegan-Dehkordi, Fatemeh, Noori-Daloii, Mohammad Reza, Reiisi, Somayeh, Hashemzadeh-Chaleshtori, Morteza, Tabatabaiefar, Mohammad Amin   +7 more
core   +1 more source

Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case of ILDR1-Dependent Hearing Loss Disorder

Frontiers in Genetics, 2017
Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive ...
Jernej Kovač, Gašper Klančar, Katarina Trebušak Podkrajšek, Katarina Trebušak Podkrajšek, Saba Battelino, Saba Battelino   +5 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Journal of Translational Medicine, 2019
Background Biallelic PTPRQ pathogenic variants have been previously reported as causative for autosomal recessive non-syndromic hearing loss. In 2018 the first heterozygous PTPRQ variant has been implicated in the development of autosomal dominant non ...
Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak   +9 more
doaj   +1 more source