Results 31 to 40 of about 12,592,373 (135)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Differential Diagnosis of Mucopolysaccharidoses Types I, II, III, IVA, and VI Through Analysis of Leukocytic Inclusions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance.
Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo   +5 more
wiley   +1 more source

Molecular analysis of the TMPRSS3 gene in Moroccan families with non-syndromic hearing loss [PDF]

, 2012
Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common type of inherited hearing impairment, accounting for approximately 80% of inherited prelingual hearing impairment.
R. Boulouiz, A. Barakat, O. Abidi, B. Delprat, H. Nahili, M. Kandil, H. Rouba, M. Charif, G. Lenaers   +8 more
core   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference [PDF]

, 2016
Contains fulltext : 165635.pdf (Publisher’s version ) (Open Access)OBJECTIVE: Non-syndromic sensorineural hearing impairment is inherited in an autosomal recessive fashion in 75-85% of cases.
Kunst, H.P., Huygen, P.L., Oonk, A.M., Kremer, H., Pennings, R.J.   +4 more
core   +1 more source

A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family [PDF]

, 2018
BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual ...
Nader Saki, Zarepour, N., Mohammad Amin Tabatabaiefar, Tahmasebi, P., Tahmasebi, Parisa, Zarepourar, Narges, Tahmasebib, Parisa, Saki, Nader, Fatemeh Nemati-Zargaran, Sakic, Nader, Javad Mohammadi-Asl, Saki, N., Tabatabaiefard, Mohammad Amin, Nemati-Zargarana, Fatemeh, Nemati-Zargaran, F., Taghipour-Sheshdeh, A., Hashemzadeh-Chaleshtori, M., Tabatabaiefar, Mohammad Amin, Parisa Tahmasebi, Morteza Hashemzadeh-Chaleshtori, Hashemzadeh-Chaleshtori, Morteza, Mohammadi-Aslf, Javad, Nemati-Zargaran, Fatemeh, Zarepour, Narges, Narges Zarepour, Taghipour-Sheshdeha, Afsaneh, Afsaneh Taghipour-Sheshdeh, Mohammadi-Asl, J., Mohammadi-Asl, Javad, Taghipour-Sheshdeh, Afsaneh   +29 more
core   +2 more sources

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

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

, 2015
Hearing loss (HL) is a major public health issue. It is clinically and genetically heterogeneous.The identification of the causal mutation is important for early diagnosis, clinical follow-up, and genetic counseling.
Duman, Duygu, Ghorbel, Abdelmonem, Bensaid, Mariem, Tekin, Mustafa, Masmoudi, Saber, Grati, M’hamed, Foster II, Joseph, Yan, Denise, Bademci, Guney, Mittal, Rahul, Ma, Qi, Diaz-Horta, Oscar, Farooq, Amjad, Chakchouk, Imen, Liu, Xue, Chakroun, Amine   +15 more
core   +1 more source

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Scientific Reports
The MYO7A gene is known to be responsible for both syndromic hearing loss (Usher syndrome type1B:USH1B) and non-syndromic hearing loss including autosomal dominant and autosomal recessive inheritance (DFNA11, DFNB2).
Kizuki Watanabe, Shin-ya Nishio, Shin-ichi Usami, the Deafness Gene Study Consortium   +3 more
doaj   +1 more source