Results 171 to 180 of about 685,899 (302)

Advancing Clinical Research

Advanced Science, EarlyView.
wiley   +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

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

Comparison of Test-Retest Reliability of Sound Field Audiometry Between a Newly Designed System for Small Audiometric Booths and a Conventional Sound Field System. [PDF]

J Clin Med
Kim HC, Kim HM, Choi YM, Park KH, Bark HS, Cho HH.   +5 more
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

From Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A. [PDF]

Otol Neurotol
Wijn DH, Fehrmann MLA, Robijn SMM, Velde HM, Smits JJ, van Wijk E, Beynon AJ, Cals FLJ, Hoyng CB, Yzer S, Lanting CP, Pennings RJE.   +11 more
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

Electrophysiological Tests for Hearing [PDF]

Proceedings of the Royal Society of Medicine, 1975
openaire   +2 more sources

Modified test administrators’ guide : tests for children with a hearing impairment and children who use sign language [PDF]

, 2012

core  

‘I Don't Babysit’: Stay‐at‐Home Dads' Perspectives and Experiences Within Australian Society

Australian Journal of Social Issues, EarlyView.
ABSTRACT Stay‐at‐home‐dads are an emerging group in Australia, impacted by societal assumptions and expectations. However, there is a scarcity of research on the perspectives and experiences of fathers assuming stay‐at‐home dad roles within Australian society.
Elyse Manie, Patricia Taylor, Hayley McKenzie, Norma Barrett   +3 more
wiley   +1 more source