Results 181 to 190 of about 2,504,313 (305)

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

The neglected epidemic of type 5 diabetes mellitus. [PDF]

Ann Med Surg (Lond)
Azhar Z, Sadia Z, Siddiqui AN, Yokolo H.
europepmc   +1 more source

Association of metabolic score for insulin resistance with gestational diabetes mellitus: a multicenter cohort study [PDF]

Qiong Li, Ailing Chen, Chenyang Zhao, Ying Zhang, Meng Li, Ying Gu, Yajing Pang, Yu Ping, Chaoyan Yue   +8 more
openalex   +1 more source

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

HYVET. Results of the randomized blinded placebo-controlled study on the effectiveness of arterial pressure lowerind in peoples upward 80 years

Сахарный диабет, 2008
Editorial team Diabetes Mellitus
doaj   +1 more source

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

Russian science conference "Diabetes and Kidney"

Сахарный диабет, 2008
Editorial team Diabetes Mellitus
doaj   +1 more source

Causal insights into gestational diabetes mellitus. [PDF]

Front Endocrinol (Lausanne)
Zahoor S, Constantinou AC, O'Halloran F, O'Mahony L, O'Riordan M, Kgosidialwa O, Culliney L, Said Alhajri M, Hasanuzzaman M.   +8 more
europepmc   +1 more source

Redox Balance, Mitohormesis, and Organ Stress in Type 2 Diabetes Mellitus: Mechanistic Insights and the Therapeutic Role of SGLT2 Inhibitors [PDF]

Toshiki Otoda, Ken‐ichi Aihara, Tadateru Takayama   +2 more
openalex   +1 more source

Reduced Gray Matter Volume in Patients with Type 2 Diabetes Mellitus [PDF]

, 2017
Jia Liu, Taiyuan Liu, Wenhui Wang, Lun Ma, Xiaoyue Ma, Shaojie Shi, Qiyong Gong, Meiyun Wang   +7 more
openalex   +1 more source