Results 61 to 70 of about 683 (138)

The potential impact of implementation of expanded carrier screening on pediatric patient diagnoses: A retrospective chart review of patients who receive care in an outpatient genetics clinic in the northeast

Journal of Genetic Counseling, Volume 33, Issue 5, Page 1026-1034, October 2024.
Abstract The use of expanded carrier screening (ECS) to assess reproductive risk for autosomal recessive (AR) or X‐linked recessive (XLR) conditions has been increasingly integrated into obstetrical care. The aim of this study was to determine what proportion of pediatric patients seen by a medical genetics practice could have had their diagnosis ...
Kelly Roche, Shama P. Khan, Christina Botti, Philip Giampietro, Sharon Anderson, Elena Ashkinadze   +5 more
wiley   +1 more source

Unraveling the Genetic Basis of Combined Deafness and Male Infertility Phenotypes through High‐Throughput Sequencing in a Unique Cohort from South India

Advanced Genetics, Volume 5, Issue 2, June 2024.
A comprehensive analysis of the genetic makeup of a unique cohort of males with hearing impairment and infertility uncovers a wide range of gene variations spanning seven chromosomes, highlighting significant genetic heterogeneity within this disorder.
Jeffrey Justin Margret, Chandru Jayasankaran, Pavithra Amritkumar, Hela Azaiez, C. R. Srikumari Srisailapathy   +4 more
wiley   +1 more source

Genetic Screening of GJB2 and SLC26A4 in Korean Cochlear Implantees: Experience of Soree Ear Clinic [PDF]

, 2012
ObjectivesGenetic hearing loss is highly heterogeneous and more than 100 genes are predicted to cause this disorder in humans. In spite of this large genetic heterogeneity, mutations in SLC26A4 and GJB2 genes are primarily responsible for the major ...
Abe, Albert, Brobby, Denoyelle, Estivill, Ho-Ki Lee, Hong-Joon Park, Joong-Wook Shin, Kelsell, Kudo, Lenz, Marazita, Morell, Morton, Park, Park, Park, Reardon, Rennels, Seung-Chul Lee, Tsukamoto, White, Wu, Zelante   +23 more
core   +2 more sources

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation

Laryngoscope Investigative Otolaryngology, Volume 9, Issue 3, June 2024.
Diagnostic yield for Hispanic and Latino with severe to profound sensorineural hearing loss undergoing comprehensive genomic testing. Abstract Objective Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking.
Monica Rodriguez‐Valero, Adrian Pastolero, Shelby Redfield, Alma Medrano, Melania Abreu‐Gonzalez, Jose Francisco Gallardo‐Ollervides, Juan Carlos Cisneros Lesser, Maria Fernanda Hinojosa Valencia, Dennis Poe, Eliot Shearer   +9 more
wiley   +1 more source

Mutation analysis of GJB2 and GJB6 genes and the genetic linkage analysis of five common DFNB loci in the Iranian families with autosomal recessive non-syndrom [PDF]

, 2010
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far.
Ashrafi, Koorosh., Farokhi, Effat., Gholami, A., Hashemzadeh-Chaleshtori, Morteza., Montazer Zohouri, Mostafa., Noori-Daloii, Mohammad Reza., Safari Chaleshtori, Javad., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +8 more
core  

Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades

Journal of Cellular and Molecular Medicine, Volume 28, Issue 8, April 2024.
Abstract Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages.
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben‐Mahmoud, Vijay Gupta, Hyung‐Goo Kim, Barbara Vona   +6 more
wiley   +1 more source

Haplotype Analysis of Seven Non-Syndromeic Autosomal Recessive Hearing Loss Loci in Iranian Families

Journal of Rehabilitation, 2010
Objective: Hearing impairment is the most frequent sensorineural defect in 2 forms, syndromic and non–syndromic. The aim of this study is haplotype analysis of seven loci of non–syndromic autosomal recessive hearing loss in Iranian families. Materials &
Ramak Badr, Bahareh Shoja-Saffar, Niloofar Bazzaz-Zadegan, Khadijeh Jalalvand, Kimia Kahrizi, Hossein Najm-Abadi   +5 more
doaj  

A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts

Molecular Genetics &Genomic Medicine, Volume 12, Issue 2, February 2024.
pc‐MINI vector detection results. (A) Construction of the pcMINI‐SLC26A4‐wt/mut vector harboring exon6 and flanking intronic sequences from WT or Mut types (c.765+4A>G) of the SCL26A4 gene. (B) Minigene construction sequencing map, Wt on top and Mut on bottom; (C) RT‐PCR products were separated by electrophoresis of the pcMINI‐SLC26A4‐wt/mut vector in ...
Suyang Wang, Yi‐Ming Zhu, ChenYang Xu, Wenjuan Ding, Hui Jia, Panpan Bian, Baicheng Xu, Yufen Guo, Xiaowen Liu   +8 more
wiley   +1 more source

Cholangiocyte anion exchange and biliary bicarbonate excretion [PDF]

, 2006
Primary canalicular bile undergoes a process of fluidization and alkalinization along the biliary tract that is influenced by several factors including hormones, innervation/neuropeptides, and biliary constituents.
Banales, J.M. (Jesús M.), Medina, J.F. (Juan Francisco), Prieto, J. (Jesús)   +2 more
core   +1 more source

Mutation screening of GJB2 and GJB6 and genetic linkage study of three prevalent DFNB loci in Iranian families with autosomal recessive non-syndromic hearing loss [PDF]

, 2010
Background and aim: The incidence of prelingual hearing loss (HL) is about 1 in 1000 neonates of which, more than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 100 loci have been identified.
Ashrafi, Koorosh., Farrokhi, Effat., Ghasemikhah, Reza., Hashemzadeh-Chaleshtori, Morteza., Montazer Zohouri, Mostafa., Noori-Daloii, Mohammad Reza., Saffari-Chaleshtori, Javad., Shariati, Laleh., Tabatabaiefar, Mohammad Amin.   +8 more
core