Results 191 to 200 of about 572,641 (262)

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

Review of: "Dermatoglyphics: The Future of Screening Type 2 Diabetes Mellitus?" [PDF]

Amara Andleeb
openalex   +1 more source

Distinguishing diabetes secondary to pancreatic diseases from type 2 diabetes mellitus

, 2021
Phil A. Hart, Dana K. Andersen, Maxim S. Petrov, Mark O. Goodarzi   +3 more
openalex   +2 more sources

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

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

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 the effects of metformin, citral, Cymbopogon citratus extract and silver nanoparticles of Cymbopogon citratus extract on oxidative stress indices and Nrf2 levels in experimental type 2 diabetes in rats

Animal Models and Experimental Medicine, EarlyView.
The experimental type 2 diabetes model in rats induced by streptozotocin and nicotinamide showed that silver nanoparticles synthesized from lemongrass extract modulate blood glucose, water and food intake, and enhance antioxidant enzyme synthesis and weight gains.
Milad Faraji, Mohammad Foad Noorbakhsh, Nasrin Kazemipour, Saeed Nazifi, Hamid Reza Moradi, Nasrollah Ahmadi, Maryam Azadmanesh   +6 more
wiley   +1 more source

Original paper
Selected antioxidative enzyme activities in patients with diabetes mellitus type 2

, 2005
Robert Błaszczak, Józef Kędziora, Danuta Ertel, Maciej Rutkowski, Kornelia Kędziora–Kornatowska, Tomasz Kornatowski, Jacek Rysz, Krzysztof Kujawski, Danuta Stachura   +8 more
openalex   +1 more source

Medication adherence in patients with type 2 diabetes mellitus treated at primary health clinics in Malaysia

, 2013
Thomas Paraidathathu, Azuana, Farida Islahudin, Ahmad   +3 more
openalex   +2 more sources

Retinal Vascular Fractals Correlate With Early Neurodegeneration in Patients With Type 2 Diabetes Mellitus [PDF]

, 2015
Ulrik Frydkjær-Olsen, Rasmus Søgaard Hansen, Knud Erik Pedersen, Tünde Pető, Jakob Grauslund   +4 more
openalex   +1 more source