Results 61 to 70 of about 100,750 (284)

A Comparison of Metaphoric Expressions Comprehension in Mainstreaming Students with Severe Hearing Impairment and Hearing Students of Junior High School

Journal of Rehabilitation, 2010
Objective: Many researchers believe hearing impaired people suffer from special disability in metaphor comprehension. This study was aimed to compare the comprehension of metaphoric expressions in mainstreaming sever hearing impaired and normal students ...
Reyhaneh Mohammadi, Tahereh-Sima Shirazi, Reza Nilipour, Mahdi Rahgozar, Abbas Pourshahbaz   +4 more
doaj  

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

A comparative evaluation of dental caries status among hearing-impaired and normal children of Malda, West Bengal, evaluated with the Caries Assessment Spectrum and Treatment

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2016
Context: Dental caries is one of the major modern-day diseases of dental hard tissue. It may affect both normal and hearing-impaired children. Aims: This study is aimed to evaluate and compare the prevalence of dental caries in hearing-impaired and ...
Sudipta Kar, Goutam Kundu, Shyamal Kumar Maiti, Chiranjit Ghosh, Badruddin Ahamed Bazmi, Santanu Mukhopadhyay   +5 more
doaj   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Hearing Impaired Children in Turkey and Their Education [PDF]

, 2017
Ayhan Babaroğlu
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Profile of Patients of the Auditory Health of the State of Santa Catarina Served at HU-UFSC

International Archives of Otorhinolaryngology, 2011
Introduction: Hearing is one of the essential functions for the development of language and its deficiency may lead to several consequences. Objective: To describe the profile of patients of the Hearing Health Program of the State of Santa Catarina ...
Dimatos, Oscar Cardoso, Ikino, Cláudio Márcio Yudi, Philippi, Paulo Arlindo, Dimatos, Spyros Cardoso, Birck, Marília Susane, Freitas, Paulo Fontoura   +5 more
doaj  

Digital speech hearing screening using a quick novel mobile hearing impairment assessment: an observational correlation study

Scientific Reports
By 2050, 1 in 4 people worldwide will be living with hearing impairment. We propose a digital Speech Hearing Screener (dSHS) using short nonsense word recognition to measure speech-hearing ability. The importance of hearing screening is increasing due to
Russell Banks, Barry R. Greene, Isaiah Morrow, Marissa Ciesla, David Woolever, Sean Tobyne, Joyce Gomes-Osman, Ali Jannati, John Showalter, David Bates, Alvaro Pascual-Leone   +10 more
doaj   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source