Results 191 to 200 of about 2,504,313 (305)

A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen, Dayna Morel Swols, Guney Bademci, Mustafa Tekin   +3 more
wiley   +1 more source

In memoriam of prof. Mikhail I. Balabolkin (18.11.1934-08.02.2009)

Сахарный диабет, 2009
Editorial team Diabetes Mellitus
doaj   +1 more source

Anatomic rupture location, leukocyte levels and diabetes mellitus as factors influencing in-hospital mortality following percutaneous repair of post-infarction ventricular septal rupture: a single centre study [PDF]

Faisal Habib, Nadya Keumala Fitri, Tengku Winda Ardini, Ali Nafiah Nasution   +3 more
openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Molecular mechanism for platelet hyperreactivity in diabetes mellitus. [PDF]

J Diabetes Investig
Kaneto H.
europepmc   +1 more source

Variations in the Obesity Gene “LEPR” Contribute to Risk of Type 2 Diabetes Mellitus: Evidence from a Meta-Analysis [PDF]

, 2016
Ming Ming Yang, Wang Jun, Jiao Fan, Tsz Kin Ng, Dian Jun Sun, Xin Guo, Yan Teng, Yanbo Li   +7 more
openalex   +1 more source

Number of teeth and masticatory function are associated with sarcopenia and diabetes mellitus status among community-dwelling older adults: A Shimane CoHRE study

, 2021
Takafumi Abe, Kazumichi Tominaga, Yukio Ando, Yuta Toyama, Miwako Takeda, Masayuki Yamasaki, Kenta Okuyama, Tsuyoshi Hamano, Minoru Isomura, Toru Nabika, Shozo Yano   +10 more
openalex   +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

Diabetes Mellitus and the Prostate: The Odd Pairing. [PDF]

Cureus
Fleifel M, El Alam A.
europepmc   +1 more source

MON-641 Effectiveness Of Semaglutide On Renal Outcomes In Chronic Kidney Disease (CKD) Patients With Type 2 Diabetes Mellitus: A Systematic Review and Meta-Analysis [PDF]

Daniah Rizwan, Mian Zahid Jan Kakakhel, Husnain Ahmad, Uswa Hasana, Syed Umbreen, Duaa Jaffar, Mansoor Ahmad, Hamna Jawad, Rameez Qasim, Laiba Amir Shaikh, Pardeep Kumar, Kashif Kamran Khan, Hasan Ilyas, Muhammad Usman Haider, Ishtiaq Ahmad, Adeel Akram   +15 more
openalex   +1 more source