Results 201 to 210 of about 609,093 (295)

Efficient Endolymphatic Sac-Directed Gene Delivery Using AAV8BP2 and Posterior Semicircular Canal Injection. [PDF]

Int J Mol Sci
Kang M, Suh MJ, Gee HY, Chien WW, Jung J.   +4 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Transcanal Endoscopic Ear Surgery for Conductive Hearing Loss in Postoperative Ears: A Report of Two Cases. [PDF]

Case Rep Otolaryngol
Sugimoto H, Inaba M, Nagasaki G, Yoshizaki T.   +3 more
europepmc   +1 more source

Rat ears, tree ears, ghost ears and thunder ears n Austronesian languages

Bijdragen tot de taal-, land- en volkenkunde / Journal of the Humanities and Social Sciences of Southeast Asia, 2000
openaire   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A theoretical description of the tree cricket ear as a highly phase sensitive biomechanical interferometer. [PDF]

iScience
Celiker E, Sutton GP, Mhatre N.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Inner ear deficits complicate interpretation of depression-like behaviors in <i>Gpr156</i> mutant mice. [PDF]

Proc Natl Acad Sci U S A
Tarchini B, Eatock RA, Kindt KS, Orlandi C, Cullen KE.   +4 more
europepmc   +1 more source

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

Patulous Eustachian tube dysfunction following rapid weight loss associated with semaglutide use: A case report. [PDF]

SAGE Open Med Case Rep
Burmeister JR, Jawad M, Zazay I, Kobernick A.   +3 more
europepmc   +1 more source