Results 161 to 170 of about 1,825,012 (307)

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

News from IV Russian Diabetology congress

open access: yesСахарный диабет, 2008
Editorial team Diabetes Mellitus
doaj   +1 more source

Impact of Diabetes Mellitus in Tuberculosis (TB) Patients on TB Transmission. [PDF]

open access: yesClin Infect Dis
Huang CC   +12 more
europepmc   +1 more source

Characteristics of Candida isolates from patients with diabetes mellitus.

open access: yes, 2006
The present research has investigated the molecular characterization of oral yeasts in healthy individuals from different dental clinical settings in the United Kingdom, and patients from the UK and Italy who were affected by diabetes mellitus (DM) to ...
Manfredi, M.
core  

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad   +6 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

Results of the international forum "Joun together againts diabetes". Resolution project

open access: yesСахарный диабет, 2008
Editorial team Diabetes Mellitus
doaj   +1 more source

[Diagnostics and treatment of type 1 diabetes mellitus (Update 2026)]. [PDF]

open access: yesWien Klin Wochenschr
Lechleitner M   +13 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim   +8 more
wiley   +1 more source

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