research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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research Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
research Modern endovascular and aesthetic surgery techniques to treat arteriovenous malformations of the scalp: case illustration
New techniques for treating scalp blood vessel malformations are effective and can have good cosmetic results.
research Author response: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 is a crucial regulator of the Sonic Hedgehog signaling in early mouse retinal development.
research Ophthalmologic Features of Thallium Poisoning
Thallium poisoning can cause serious eye problems and other severe health issues.
research Penilaian Teknis dan Ekonomi Unit Penangkapan Jaring Cumi di PPP Bajomulyo Pati, Jawa Tengah.
Parental uveitis increases offspring's risk and severity of autoimmune eye disease.
research Floppy Iris Syndrome
Tamsulosin increases the risk of floppy iris syndrome during cataract surgery.
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
research Ectopic Sebaceous Glands in the Hair Follicle Matrix: Case Reports and Literature Review of this Embryogenic Anomaly
The cause and importance of misplaced oil glands in the hair follicle are not well understood.
research Alopecia in Cronkhite-Canada syndrome
Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.
research Keratin expression by corneal and limbal stem cells during development
Different types of cells in the eye express specific keratins at various stages of development.
research Eflúvio telógeno após dermatite de contato no couro cabeludo
Contact dermatitis treatment for alopecia areata can lead to temporary hair loss.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Giant Congenital Melanocytic Nevus Correction: A Case Report
A combined surgical approach by different specialists can effectively treat large birthmarks on the scalp.
research A case of localized follicular hamartoma: an ultrastructural and immunohistochemical study
The hamartoma is an abnormal hair growth with limited development in the upper hair follicle.
research Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
Mutations in the hairless gene cause a rare form of permanent hair loss.
research Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
research Pathologic Quiz Case: An 84-Year-Old Woman With a Skin Cyst Containing Ziehl-Neelsen–Positive Structures
Basal cell carcinoma may originate from vellus hair cysts.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research An eGFP-Col4a2 mouse model reveals basement membrane dynamics underlying hair follicle morphogenesis
Basement membrane changes are crucial for hair follicle development.
research [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis].
Early diagnosis and treatment of haemochromatosis are crucial for reversing organ damage and improving fertility.
research Hormone-active ovarian steroid cell tumor in a 2-year-old girl
A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
research 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28
Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
research A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia
Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Onycholemmal horn: A distinctive subungual tumour
Onycholemmal horn is a rare nail tumor in elderly women, treated by surgical removal.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review
CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.