Results 281 to 290 of about 2,685,283 (406)

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Beyond the Middle Ear: A Thorough Review of Cholesteatoma in the Nasal Cavity and Paranasal Sinuses. [PDF]

Diagnostics (Basel)
Athanasopoulos M, Samara P, Mastronikolis S, Mastronikoli S, Danielides G, Lygeros S.   +5 more
europepmc   +1 more source

Contributions to aural surgery, part III.—Inflammatory affections of the membrana tympani and middle ear [PDF]

W. R. Wilde
openalex   +1 more source

Consensus Statement: Eriksholm Workshop on Wideband Absorbance Measures of the Middle Ear

Ear and Hearing, 2013
M. Feeney, Lisa L. Hunter, J. Kei, David J. Lilly, Robert H. Margolis, H. Nakajima, Stephen T. Neely, B. Prieve, J. Rosowski, Chris A. Sanford, K. Schairer, Navid Shahnaz, S. Stenfelt, S. E. Voss   +13 more
semanticscholar   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

[Characteristic analysis of otoacoustic emission compensating middle ear pressure in patients with middle ear negative pressure]. [PDF]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Wu B, Xiao M.
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Rare Presentation of Middle Ear Neuroendocrine Tumor: A Case Report. [PDF]

Am J Case Rep
Zeng N, Yang Q, Hu J, Yan S.
europepmc   +1 more source

Comprehensive and Clinical Anatomy of the Middle Ear

Cambridge International Law Journal, 2013
S. Mansour, J. Magnan, Hassan Haidar Ahmad, Karen Nicolas, S. Louryan   +4 more
semanticscholar   +1 more source