Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update
MK Herlin, MB Petersen, M Brännström - Orphanet Journal of Rare …, 2020 - Springer
Abstract Background Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to
as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and …
as Müllerian aplasia, is a congenital disorder characterized by aplasia of the uterus and …
Identification of genetic causes in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a systematic review of the literature
VE Triantafyllidi, D Mavrogianni, A Kalampalikis… - Children, 2022 - mdpi.com
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital condition characterizing
females with absence of the uterus and part of the vagina. Several genetic defects have …
females with absence of the uterus and part of the vagina. Several genetic defects have …
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer–Rokitansky …
Abstract The aetiology of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome,
characterized by uterovaginal agenesis in 46, XX women, remains poorly understood. Since …
characterized by uterovaginal agenesis in 46, XX women, remains poorly understood. Since …
[HTML][HTML] 17q12 recurrent deletion syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the
three following findings: structural or functional abnormalities of the kidney and urinary tract …
three following findings: structural or functional abnormalities of the kidney and urinary tract …
[HTML][HTML] Options for acquiring motherhood in absolute uterine factor infertility; adoption, surrogacy and uterine transplantation
Absolute uterine factor infertility (AUFI) is a form of infertility whereby conception and/or
maintenance of pregnancy is impossible owing to uterine absence or dysfunction. AUFI may …
maintenance of pregnancy is impossible owing to uterine absence or dysfunction. AUFI may …
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and …
L Madariaga, A García-Castaño, G Ariceta… - Clinical Kidney …, 2019 - academic.oup.com
Background Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with
congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and …
congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and …
Genetics of agenesis/hypoplasia of the uterus and vagina: Narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome
S Mikhael, S Dugar, M Morton, LP Chorich, KB Tam… - Human genetics, 2021 - Springer
Abstract Purpose Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome consists of
congenital absence of the uterus and vagina and is often associated with renal, skeletal …
congenital absence of the uterus and vagina and is often associated with renal, skeletal …
Identification of candidate genes for Mayer-Rokitansky-Küster-Hauser syndrome using genomic approaches
B Backhouse, C Hanna, G Robevska… - Sexual …, 2019 - karger.com
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder of sex development which
affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including …
affects 1 in 4,500 females and is characterized by agenesis of müllerian structures, including …
Endometrial organoids derived from Mayer–Rokitansky–Küster–Hauser syndrome patients provide insights into disease-causing pathways
SY Brucker, T Hentrich… - Disease Models & …, 2022 - journals.biologists.com
The uterus is responsible for the nourishment and mechanical protection of the developing
embryo and fetus and is an essential part in mammalian reproduction. Mayer–Rokitansky …
embryo and fetus and is an essential part in mammalian reproduction. Mayer–Rokitansky …
Molecular basis of müllerian agenesis causing congenital uterine factor infertility—a systematic review
Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results
in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus …
in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus …