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 …
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice
SY Jiao, YH Yang, SR Chen - Human reproduction update, 2021 - academic.oup.com
BACKGROUND Infertility is a major issue in human reproductive health, affecting an
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
estimated 15% of couples worldwide. Infertility can result from disorders of sex development …
Wnt/β-catenin signaling and disease
The WNT signal transduction cascade controls myriad biological phenomena throughout
development and adult life of all animals. In parallel, aberrant Wnt signaling underlies a …
development and adult life of all animals. In parallel, aberrant Wnt signaling underlies a …
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
S Eggers, S Sadedin, JA Van Den Bergen, G Robevska… - Genome biology, 2016 - Springer
Background Disorders of sex development (DSD) are congenital conditions in which
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often …
Exploring the genetic basis of early-onset chronic kidney disease
A Vivante, F Hildebrandt - Nature Reviews Nephrology, 2016 - nature.com
The primary causes of chronic kidney disease (CKD) in children differ from those of CKD in
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
adults. In the USA the most common diagnostic groups of renal disease that manifest before …
Wnt/β-catenin signaling: components, mechanisms, and diseases
BT MacDonald, K Tamai, X He - Developmental cell, 2009 - cell.com
Signaling by the Wnt family of secreted glycolipoproteins via the transcriptional coactivator β-
catenin controls embryonic development and adult homeostasis. Here we review recent …
catenin controls embryonic development and adult homeostasis. Here we review recent …
Whole-exome sequencing identifies causative mutations in families with congenital anomalies of the kidney and urinary tract
AT Van Der Ven, DM Connaughton, H Ityel… - Journal of the …, 2018 - journals.lww.com
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the most
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …
prevalent cause of kidney disease in the first three decades of life. Previous gene panel …
Genetics of mayer–rokitansky–küster–hauser (MRKH) syndrome
L Fontana, B Gentilin, L Fedele, C Gervasini… - Clinical …, 2017 - Wiley Online Library
Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome, also referred to as Müllerian
agenesis, is the second most common cause of primary amenorrhea. It is characterized by …
agenesis, is the second most common cause of primary amenorrhea. It is characterized by …
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
K Morcel, L Camborieux… - Orphanet journal of rare …, 2007 - Springer
Abstract The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by
congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing …
congenital aplasia of the uterus and the upper part (2/3) of the vagina in women showing …
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans
A Vivante, S Kohl, DY Hwang, GC Dworschak… - Pediatric …, 2014 - Springer
Congenital anomalies of the kidney and urinary tract (CAKUT) cover a wide range of
structural malformations that result from defects in the morphogenesis of the kidney and/or …
structural malformations that result from defects in the morphogenesis of the kidney and/or …