research Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
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360-390 / 1000+ resultsresearch 921 Generation of a new rodent model of scleroderma
Researchers created a new mouse model for studying scleroderma.
research Chapter 6. Darwinian Health and Other Contradictions
The document concludes that understanding health requires considering evolutionary perspectives on reproductive fitness, and recognizing the complexity of factors like diet, testosterone, and sexual orientation.
research Fertility and Sterility Vol 101 No 4, April 2014
The April 2014 issue of "Fertility and Sterility" discussed various reproductive health topics, including hormone therapy benefits, sperm and genetic factors in male infertility, and the link between PCOS and diabetes.
research Klinefelter syndrome and chronic leg ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
research Screening of Sheep Fibroblast Cell Line with the Spider Dragline Silk Protein Gene
Sheep cells were successfully modified to include a spider silk protein gene.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Cutaneous signals of immune system disease
Skin issues can indicate immune system problems.
research 17927 A pilot study of intrascalp platelet-rich plasma injections for hair loss in Nigerian patients
The conclusion is that many small genetic variations influence claw disorders in cows, and using genomic selection could help reduce these disorders.
research Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
A new method, iSiMPRe, effectively identifies key protein regions in cancer genes, highlighting potential drug targets.
research Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
research Exploring climate adaptation in European Merino sheep: a landscape genomics approach
Certain genes in European Merino sheep help them adapt to different climates.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research SUN-069 A 14 Year Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research Nosocomial Intravascular Catheter Infections with Extended-spectrum Beta-lactamase-producingEscherichia coliin Calves after Strain Introduction from a Commercial Herd
A hospital outbreak of catheter infections in calves was caused by a bacteria from a beef herd, leading to longer hospital stays, more drug use, and calf deaths.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Comment on: The Gabrin sign
The document suggests that more research is needed to confirm if baldness can indicate a higher risk of severe COVID-19 in men.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research 4th Intercontinental Meeting of Hair Research Societies 2004 The "World of Hair"
The meeting presented new findings on hair stem cells, pigmentation, genetics, and modern hair treatment techniques.
research Depression from a physical symptom.
Hair loss can be linked to hormonal changes, and physical conditions like heart defects can cause depression.
research An ultrahigh-sulphur keratin gene of the human hair cuticle is located at 11q13 and cross-hybridizes with sequences at 11p15
research Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.