Results 41 to 50 of about 3,419 (204)
Developmental dyslexia: Genetic dissection of a complex cognitive trait [PDF]
, 2002 Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders.
DeFries, J., Fisher, S.
core +2 more sources
American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.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 +9 more
wiley +1 more source
OftalʹmologiâBlepharophimosis syndrome (palpebral syndrome) is a sporadic or hereditary genetic disease, manifested mainly by changes in the eyelids in the form of blepharophimosis, ptosis of the upper eyelid and reverse epicanthus.
M. G. Kataev +2 more
doaj +1 more source
Goldenhar syndrome with blepharophimosis and limb deformities: a case report
BMC Ophthalmology, 2018 Background Goldenhar syndrome has variable presentations and can affect multiple regions of the body. Diagnoses are based on clinical manifestations. The association of Goldenhar syndrome with blepharophimosis and limb deformities has not previously been
Xia Ding +6 more
doaj +1 more source
Genome-Wide Association with Diabetes-Related Traits in the Framingham Heart Study [PDF]
, 2007 BACKGROUND: Susceptibility to type 2 diabetes may be conferred by genetic variants having modest effects on risk. Genome-wide fixed marker arrays offer a novel approach to detect these variants.
Cupples, L. Adrienne +6 more
core +4 more sources
Zinc Deficiency Disrupts Germ Cell Nest Breakdown During In Vitro Ovary Culture
Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.ABSTRACT In mammals, the size of the non‐renewable primordial follicle pool is established before or soon after birth. Primordial follicles, each composed of a single oocyte surrounded by somatic cells, are the only source of gametes during the entire reproductive lifespan of the female.
James M. Hester +3 more
wiley +1 more source
Regulation of reproduction via tight control of gonadotropin hormone levels. [PDF]
, 2018 Mammalian reproduction is controlled by the hypothalamic-pituitary-gonadal axis. GnRH from the hypothalamus regulates synthesis and secretion of gonadotropins, LH and FSH, which then control steroidogenesis and gametogenesis. In females, serum LH and FSH
Coss, Djurdjica
core +1 more source
Whistling face (Freeman-Sheldon) syndrome in two siblings
The Turkish Journal of Pediatrics, 1994 Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small
N Bekir +3 more
doaj
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report
Journal of Clinical and Translational Endocrinology Case Reports, 2020 Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is an extremely rare genetic developmental condition, with hallmark findings of ocular malformation. It has two subtypes, both of which include the eponymous oculofacial features.
Sabiha Banu +3 more
doaj +1 more source
Blepharophimosis-ptosis-epicanthus inversus syndrome in a Pakistani pedigree [PDF]
, 2010 Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder. We report this condition affecting 4 members of a Pakistani family across three generations.
Ahmad, Khabir +3 more
core +1 more source