Results 121 to 130 of about 38,884 (324)

Caryotype de Glossina palpalis gambiensis, Vanderplank, 1949 : comparaison avec d'autres espèces du groupe palpalis et du groupe morsitans [PDF]

, 1974
Glossina palpalis gambiensis possède, comme les autres espèces du sous-genre Nemorhina (Groupe palpalis), quatre autosomes (2 L1 + 2 L2) et deux chromosomes sexuels (XX ou XY).
Itard, Jacques
core  

Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

Advanced Science, EarlyView.
Mitochondrial transplantation (MTx) offers a promising therapeutic avenue for mitochondrial diseases. This review comprehensively evaluates MTx, differentiating its feasibility for mtDNA‐ and nDNA‐based disorders. It examines its potential for genetic correction, alongside inherent limitations, technical challenges, and crucial ethical considerations ...
Parmeshar Singh, Amir Tahavvori, Cyrus E. Kuschner, Blanca B. Espin, Jacob Kazmi, Sofhia V. Ramos, Tai Yin, Kei Hayashida, Kanako Ito‐Hagiwara, Yusuke Endo, Keitaro Yoshioka, Jun Hagiwara, Avijot Sohi, Alisha Oropallo, Ghania Haddad, Timmy Li, Lance B. Becker, Junhwan Kim   +17 more
wiley   +1 more source

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

Iranian Journal of Medical Sciences, 2017
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner ...
Zahra Razavi, Hossein Emad Momtaz
doaj  

Outcomes of Pancreas‐Sparing Total Duodenectomy for Severe Duodenal Polyposis in Patients With Familial Adenomatous Polyposis

Annals of Gastroenterological Surgery, EarlyView.
ABSTRACT Aim Spigelman stage IV duodenal polyposis (SP‐stage IV DP) is associated with high duodenal cancer risk in patients with familial adenomatous polyposis (FAP). This study evaluated the surgical and oncological outcomes of pancreas‐sparing total duodenectomy (PSTD) as a surgical prophylaxis for severe duodenal polyposis in FAP.
Takehiro Shiraishi, Hideyuki Ishida, Takatoshi Matsuyama, Noriyasu Chika, Yoshiko Mori, Norimichi Chiyonobu, Youichi Kumagai, Ibuki Fujinuma, Toshiro Ogura   +8 more
wiley   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

autosome

Citation: 'autosome' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10449 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for commercial usage
openaire   +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

Life history effects on the molecular clock of autosomes and sex chromosomes [PDF]

, 2016
Guy Amster, Guy Sella
openalex   +1 more source

Repeat sequence corresponding to the nucleosome length at the opposite end of the pairing center on autosomes in C. elegans [PDF]

, 2023
Yukimasa Shibata
openalex   +1 more source