Results 111 to 120 of about 629,525 (256)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill   +5 more
wiley   +1 more source

comparsion of lhe Elfectiveness of Lactobecillt Sappositoty with Metronidazol vagind rablet on Yaginal p*,.Sigrrs and Symptoms of Bacteriat vaginosis. [PDF]

open access: yes
Background: Bacterial vaginosis is characterized by a imbalance in the vaginal ecosystem, this change is due to an overgrowth of anaerobic bacteria and a contaminant decrease in the number of lactobacilli and increase in vaginal pH more that 4.5. Normal
ایوان بقاء, ریحانه   +3 more
core  

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

Contraception and MTP in COVID Times

open access: yesApollo Medicine, 2020
Kawita Bapat, Sonal Palod
doaj   +1 more source

Septo uterino, duplicação cervical e septo vaginal: relato de uma malformação incomum Utero septado, duplicación del cuello y septo vaginal: informe de una rara malformación Septate uterus, cervical duplication and vaginal septum: a report of an uncommon malformation

open access: yesRevista Colombiana de Obstetricia y Ginecología, 2005
Objetivo: describir una rara alteración de la fusión de los canales de Müller. Diseño: presentación de caso Reporte del caso: una paciente asiste a la consulta con un examen de ultrasonido en cuya descripción se plantea la sospecha de útero septado.
Mariangela Badalotti   +5 more
doaj  

High-grade vaginal intraepithelial neoplasia and risk of progression to vaginal cancer. a multicentre study of the Italian Society of Colposcopy and Cervico-Vaginal Pathology (SICPCV) [PDF]

open access: yes, 2016
OBJECTIVE: The aim of this study was to analyse the women with high grade vaginal intraepithelial neoplasia (HG-VaIN), in order to identify a subset of women at higher risk of progression to invasive vaginal cancer.
Agarossi, A   +16 more
core  

Workup and conservative management of ileal conduit-vaginal fistulas: review of literature. [PDF]

open access: yes, 2020
Ileal conduit-vaginal fistulas are a rare but challenging complication of urinary diversion. Here we identify risk factors and summarize the workup and conservative management strategies for this complication.
Chowdhury, Mashrin Lira   +3 more
core  

Optimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...
Jiayi Gong   +5 more
wiley   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu   +6 more
wiley   +1 more source

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