Results 101 to 110 of about 267,083 (297)

B/ordering and healthcare access for migrants with precarious status: The role of healthcare workers in counteracting restrictive policies

American Journal of Community Psychology, EarlyView.
Abstract In Canada, precarious migration is largely invisibilized. Nonetheless, b/ordering greatly affects people's realities by limiting access to social rights. In Quebec, migrants with precarious status (MPS) do not have access to healthcare, although Quebec has a “universal” healthcare coverage.
Émilie Pigeon‐Gagné, Jill Hanley, Élise Bourgeois‐Guérin, Pénélope Boudreault   +3 more
wiley   +1 more source

Papiloma Mülleriano del tabique rectovaginal

Cirugía del Uruguay, 2005
Se presenta un caso clínico de una mujer de 51 años, portadora de un papiloma mülleriano del tabique rectovagina/. Estos son tumores raros, de origen embriológico; remanentes de la fusión de los conductos paramesonéfricos o de Mül/er, que dan lugar al ...
Pablo Valsangiacomo, Luis Ruso, Ernesto Ormaechea, Marcelo Mesa, Sonia Boudrandi, Martín Harretche   +5 more
doaj  

Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. [PDF]

, 1996
Autosomal recessive mutations in the 17 beta-hydroxysteroid dehydrogenase 3 gene impair the formation of testosterone in the fetal testis and give rise to genetic males with female external genitalia.
Andersson, Stefan, Blethen, Sandra L., Bloise, Walter, Cutler Jr., Gordon B., Davis, Daphne L., Geissler, Wayne M., Griffin, James E., Grumbach, Melvin M., Mendonca, Berenice B., New, Maria I., Russell, David D., Schwarz, Hans P., Wilson, Jean D., Witchel, Selma F., Wu, Ling   +14 more
core   +1 more source

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

American 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, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

A single-institution review of image-guided brachytherapy for vaginal malignancies using customized molded applicators and interstitial needles

Journal of Contemporary Brachytherapy, 2021
Emily Flower, Salman Zanjani, Gemma Busuttil, Emma Sullivan, Wayne Smith, Kathy Tran, David Thwaites, Jennifer Chard, Viet Do   +8 more
doaj   +1 more source

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

American 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, Cindy Bayer, Emily McQuillen, Erica D. Smith, Meghan Towne, Dallas Reed   +5 more
wiley   +1 more source

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

American 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, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

ISOLASI DAN IDENTIFIKASI BAKTERI ESCHERICHIA COLI PADA VAGINA SAPI ACEH [PDF]

, 2018
ISOLASI DAN IDENTIFIKASI BAKTERI Escherichia coli PADA VAGINA SAPI ACEH ABSTRAKPenelitian ini bertujuan untuk mengisolasi dan mengidentifikasi bakteri Escherichia coli pada vagina sapi aceh.
Dian Zahlina
core  

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

Animal 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, Wei Qian, Deji Song, Kang Li, Li Zhang, Li Shi   +5 more
wiley   +1 more source