Results 191 to 200 of about 3,357,997 (312)

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

The association between hearing loss in adults and cognitive outcomes: an umbrella review and meta-analysis. [PDF]

Front Aging Neurosci
Liang J, Yu P, You Q, Yang K.
europepmc   +1 more source

Hearing and hearing disorders. 2. Hearing test.

Japanese Journal of National Medical Services, 1986
INO, Tadahiko, YAKABE, Shigeru, TAKEO, Sadanori, MAEKAWA, Soichiro, YOSHIDA, Yasuhiro, IKEJIRI, Koji   +5 more
openaire   +1 more source

Tests of Hearing [PDF]

Nature, 1933
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

Prevalence of Hearing Problems among School-aged Children Enrolled in Special Education in Selected Public Schools in Ilocos Norte. [PDF]

Acta Med Philipp
Alvarez JC, Rozul CDA, Orosa JB.
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

Evaluation of Pulmonary and Otological Manifestations in Primary Ciliary Dyskinesia and Their Effect on Quality of Life. [PDF]

Pediatr Pulmonol
Yanaz M, Eralp EE, Yegit CY, Gulieva A, Kalyoncu M, Balci MS, Karabulut S, Aliyev N, Ozturk N, Ergenekon AP, Gokdemir Y, Yumusakhuylu AC, Ciprut A, Karadag B.   +13 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

Beyond speech perception: contemporary landscape of language agnostic hearing assessment. [PDF]

Front Neurosci
Schaeffer AR, Bi Y, Bologna WJ, Gallun FJ, Hwa TP.   +4 more
europepmc   +1 more source