research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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480-510 / 1000+ resultsresearch Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Abstract 14
A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research ‘Atrichosis’, a new hairless gene with cyst formation in rats
A new gene causes hairlessness and skin cysts in rats.
research Polycystic Ovarian Morphology is Associated with Hyperandrogenemia and Insulin Resistance in Women with Polycystic Ovary Syndrome (PCOS)
Women with PCOS and polycystic ovaries have higher male hormone levels and more insulin resistance, especially if they are overweight.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
research Highly Upregulated Lhx2 in the Foxn1−/− Nude Mouse Phenotype Reflects a Dysregulated and Expanded Epidermal Stem Cell Niche
The Foxn1(-/-) nude mouse shows disrupted and expanded skin stem cell areas due to high Lhx2 levels.
research Preovulatory oocyte transfer to a preovulatory follicle: An alternative to in vitro fertilization in the mare
research The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research POLİKİSTİK OVER SENDROMU FENOTİPLERİ VE METABOLİK DİSFONKSİYON İLİŞKİSİ
Obesity is linked to higher metabolic syndrome and LH/FSH ratios, but no significant differences exist among PCOS phenotypes.
research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fzica) mice points to fuzzy as a key element of hair cycle control
The fuzzy gene is crucial for controlling hair growth cycles.
research Síndrome dos ovários policísticos: correlação dos fenótipos com as manifestações metabólicas
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Tibet Koyun Ovaryumunda Proteinlerin Farklı Ekspresyonu ve Farklı Foliküler Gelişim Aşamalarında Alt Boyut Özellikleriyle İlişkisi
The research improved understanding of twin births and fertility in Tibetan sheep, helping animal farming.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Rotterdam criteria–based diagnostic subtype is not a strong predictor of cutaneous phenotype in patients with polycystic ovary syndrome: A cross-sectional study
The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
research POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research Central Obesity and BMI Associated with Different Phenotypes of Polycystic Ovary Syndrome in Adolescent
Obesity and BMI don't differ among PCOS types, but teens should learn about long-term health risks.
research What may be the markers of the male equivalent of polycystic ovary syndrome?
Some men with early hair loss may have a condition similar to PCOS in women.
research Adult Onset Isolated Hypogonadotropic Hypogonadism- a Cause of Secondary Amenorrhea
A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
research Androgen Levels Do Not Predict PCOS Phenotypes in Adolescents and Young Adults
Androgen levels do not determine the type of PCOS symptoms in young females.
research Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
FOXN1 mutations can cause varying immune and physical issues, with severity influenced by gene activity and possibly other factors.
research Insulin Resistance, Acanthosis Nigricans, and Polycystic Ovaries Associated with a Circulating Inhibitor of Postbinding Insulin Action
A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
research Hyperandrogenic eumenorrheic NON-PCOS women versus women with PCOS after the GnRH-agonist stimulation test preceded by suppression of adrenal steroidogenesis with dexamethasone
PCOS women have more severe metabolic issues and higher androgen levels than hyperandrogenic women without PCOS.
research Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
A new genetic mutation in the hairless gene causes a rare hair loss disorder.