Results 191 to 200 of about 13,663,771 (328)

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison, Ruth Braden, David J. Amor, Angela T. Morgan   +3 more
wiley   +1 more source

Optimizing staging of Meniere's disease: integrating electrocochleography with vestibular tests. [PDF]

Front Neurosci
Huang M, Wang X, Chen M.
europepmc   +1 more source

One-third octave band augmented speech discrimination testing for normal hearing listeners

, 2000
Nancy Bowen
openalex   +2 more sources

Infant hearing loss and connexin testing in a diverse population [PDF]

, 2008
Lisa A. Schimmenti, Ariadna Martinez, Milhan Telatar, Chih‐Hung Lai, Nina L. Shapiro, Michelle Fox, Berta Warman, Matthew McCarra, Barbara F. Crandall, Yvonne S. Sininger, Wayne W. Grody, Christina G.S. Palmer   +11 more
openalex   +1 more source

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Role of Lung Function, Chronic Obstructive Pulmonary Disease on Hearing Impairment: Evidence for Causal Effects and Clinical Implications. [PDF]

Audiol Res
Yuan L, Cui F, Yin G, Shi M, Aximu N, Tian Y, Sun Y.   +6 more
europepmc   +1 more source

An Epidemiological Study Regarding the Hearing Acuity of Residents in the Area with High Level of Aircraft Noise: Results of Hearing Tests Conducted in the Vicinity of Kadena Air Base.

, 2001
Takashi Miyakita, Tomoyoshi Yoza, Toshihito Matsui, Akiyoshi Ito, Kozo Hiramatsu, Yasutaka Osada, Takeo Yamamoto   +6 more
openalex   +2 more sources

The Norwegian Hearing in Noise Test [PDF]

, 2008
Marte Myhrum, Inger Moen
openalex   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source