Results 61 to 70 of about 77,179 (233)

Sex assignment in conditions affecting sex development [PDF]

open access: yes, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Expression Characterization of Six Genes Possibly Involved in Gonad Development for Stellate Sturgeon Individuals (Acipenser stellatus, Pallas 1771)

open access: yesInternational Journal of Genomics, 2018
Nowadays, in sturgeon’s aquaculture, there is a necessity for sex identification at early stages in order to increase the efficiency of this commercial activity.
Alexandru Burcea   +6 more
doaj   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

Gonad development and fecundity of whitefish, Coregonus lavaretus (L. 1758) from the Pomeranian Bay [PDF]

open access: yesActa Ichthyologica et Piscatoria, 1990
The Pomeranian Bay whitefish migrate to the Szczecin Lagoon to spawn. Gonads begin to develop strongly a month before spawning. After spawning in late November-early December, gonad development is very slow; the gonads do not gain weight until the end of
T. Heese
doaj   +3 more sources

Sex-change chemicals and their influence on the brain. [PDF]

open access: yes, 2001
The potential for man-made chemicals to mimic or antagonise natural hormones is a controversial issue, but one for which increasing amounts of evidence are being gathered worldwide.
Harris, CA
core   +3 more sources

Anorexia nervosa and reproduction: connecting brain to gonads [PDF]

open access: yes, 2020
Anorexia nervosa (AN) is a psychiatric disorder that predominantly affects young women and is characterized by low caloric intake and a major dissatisfaction with one’s body image.
Ciobanu, Corina   +3 more
core   +2 more sources

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

Abnormal gonads in the Antarctic toothfish (Dissostichus mawsoni Norman, 1937 [Perciformes: Nototheniidae]): the first record and histological description

open access: yesPolar Research, 2018
This paper describes the morphology and histology of abnormal gonads in Antarctic toothfish (Dissostichus mawsoni) and the possibility of intersexuality and senescence of some individuals. Two old (approximately 25 years) and large (184–185 cm) specimens
Kristina A. Zhukova   +2 more
doaj   +1 more source

Prevalence, intensity, and effect of a nematode (Philometra saltatrix) in the ovaries of bluefish (Pomatomus saltatrix) [PDF]

open access: yes, 2006
Examination of 203 adult bluefish (Pomatomus saltatrix) from Long Island, New York, in 2002 and 2003 and 66 from the Outer Banks, North Carolina, in 2003 revealed the presence of dracunculoid nematodes (Philometra saltatrix) in the ovaries of female ...
Clarke, Lora M.   +2 more
core  

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