Results 161 to 170 of about 1,643,238 (355)

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

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

Predictors of weight reduction effectiveness of SGLT2 inhibitors in diabetes mellitus type 2 patients. [PDF]

Front Endocrinol (Lausanne), 2023
Danpanichkul P, Manosroi W, Nilsirisuk T, Tosukhowong T.   +3 more
europepmc   +1 more source

The Finland–United States Investigation of Non–Insulin-Dependent Diabetes Mellitus Genetics (FUSION) Study. I. An Autosomal Genome Scan for Genes That Predispose to Type 2 Diabetes [PDF]

, 2000
Soumitra Ghosh, Richard M. Watanabe, Timo T. Valle, Elizabeth R. Hauser, Victoria L. Magnuson, Carl D. Langefeld, Delphine S. Ally, Karen L. Mohlke, Kaisa Silander, Kimmo Kohtamäki, Peter S. Chines, James E. Balow, Gunther Birznieks, Jennie Chang, William Eldridge, Michael R. Erdos, Zarir E. Karanjawala, Julie I. Knapp, Kristina Kudelko, Colin Martin, Anabelle Morales‐Mena, Anjene Musick, Tiffany Musick, Carrie Pfahl, Rachel Porter, Joseph B. Rayman, David Rha, Leonid Segal, Shane A. Shapiro, Ravi Sharaf, Ben Shurtleff, Alistair So, Joyce Tannenbaum, Catherine Te, Jason P. Tovar, Arun M. Unni, Christian Welch, Ray Whiten, Alyson Witt, Jillian Blaschak‐Harvan, Julie A. Douglas, William L. Duren, Michael P. Epstein, Tasha E. Fingerlin, Hong Shi Kaleta, Ethan M. Lange, Chun Li, Richard C. McEachin, Heather M. Stringham, Edward H. Trager, Peggy P. White, Johan G. Eriksson, Liisa Toivanen, Gabriele Vidgrén, Stella J. Nylund, Eva Tuomilehto‐Wolf, Edna H. Ross, Elza Demirchyan, William Hagopian, Thomas A. Buchanan, Jaakko Tuomilehto, Richard N. Bergman, Francis S. Collins, Michael Boehnke   +63 more
openalex   +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

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

Moderate Alcohol Consumption and Risk of Coronary Heart Disease Among Women With Type 2 Diabetes Mellitus [PDF]

, 2000
Caren G. Solomon, Frank B. Hu, Meir J. Stampfer, Graham A. Colditz, Frank E. Speizer, Eric B. Rimm, Walter C. Willett, JoAnn E. Manson   +7 more
openalex   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Presence of mitochondrial tRNA Leu(UUR) A to G 3243 mutation in DNA extracted from serum and plasma of patients with type 2 diabetes mellitus [PDF]

, 2000
Sen Zhong
openalex   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source