Results 91 to 100 of about 269,697 (252)

Significance of connexion genes in non-syndromic deafness in Africans [PDF]

, 2013
Includes abstract.
Bosch, Jason
core   +1 more source

Molecular patterns of β-thalassemia mutations of Saudi patients referred to King Faisal Specialist Hospital and Research Center

Journal of Applied Hematology, 2017
Background: Beta thalassemias are a group of hereditary blood disorders that are characterized by reduction or complete absence of the β-globin chain synthesis due to mutations, affecting critical areas of the β-globin gene on the chromosome 11.
Ayman Mashi, Haitham Khogeer, Adnan khyatte, Halah Abalkhail, Salem Khalil   +4 more
doaj   +1 more source

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

, 2020
International audienceCutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability.
Husson, Marie, Morice-Picard, Fanny, Thibaud, Marie, Colson, Cindy, Angelini, Chloé, Aladjidi, Nathalie, Bessou, Pierre, Goizet, Cyril, de Sandre-Giovannoli, Annachiara, Pedespan, Jean-Michel, Cabasson, Sébastien, Espil-Taris, Caroline   +11 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

BMC Medical Genetics, 2019
Background Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A.
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh   +7 more
doaj   +1 more source

Olfactory Function in Cystic Fibrosis: Outcome Measures, Olfactory Dysfunction Prevalence and the Impact of Management—A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction (OD) is an increasingly recognized but under‐investigated comorbidity of cystic fibrosis (CF). Its prevalence, assessment methods, and response to CF‐directed treatment, including highly effective modulator therapy (HEMT) remains incompletely characterized.
Luca Cox, Kofi Cox, Katherine Whitcroft, Susanne Weise, Sonal Kansra, Eishaan Bhargava   +5 more
wiley   +1 more source

Novel genetic inheritance with a rare presentation of Adams–Oliver syndrome

Journal of Dermatology and Dermatologic Surgery, 2019
Adams–Oliver syndrome (AOS) is a rare heterogeneous inherited disorder, characterized by the combination of the congenital scalp and terminal transverse limb defects. Various expressions of AOS have been reported.
Abdullah Abualait, Salaheldin Alfadni, Hala Edris, Mohammed Alshahrani, Mohamed Hanifa, Tariq Aziz, Wifag Alobeid, Ayed Al-Mordy   +7 more
doaj   +1 more source

Advancing Clinical Research

Advanced Science, EarlyView.
wiley   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Review: Hearing Loss Genetics

Journal of Rehabilitation, 2005
It has been estimated that approximately one in 1000 live births suffer from profound deafness, and greater than 50% of this group is genetic etiology.
Hossein Najm-Abadi, Kimia Kahrizi
doaj