RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
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Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humansSingle-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humansMutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).Multiple Endocrine Neoplasia: Genetics and Clinical Management.Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.To bud or not to bud: the RET perspective in CAKUT.Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.Renal development in the fetus and premature infant.Genetic Syndromes Affecting Kidney Development.Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.Bladder paraganglioma with renal agenesis: A possible new association and its implications in the light of REarranged in transfection gene genetics.Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Reciprocal Spatiotemporally Controlled Apoptosis Regulates Wolffian Duct Cloaca Fusion.
P2860
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P2860
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
RET and GDNF mutations are rar ...... re kidney development defects.
@en
RET and GDNF mutations are rar ...... re kidney development defects.
@nl
type
label
RET and GDNF mutations are rar ...... re kidney development defects.
@en
RET and GDNF mutations are rar ...... re kidney development defects.
@nl
prefLabel
RET and GDNF mutations are rar ...... re kidney development defects.
@en
RET and GDNF mutations are rar ...... re kidney development defects.
@nl
P2093
P50
P356
P1476
RET and GDNF mutations are rar ...... re kidney development defects.
@en
P2093
Anne-Lise Delezoide
Audrey Pawtowsky
Dominique Gaillard
Frédéric Tores
Guillaume Macé
Jelena Martinovic
Marie Gonzales
Marion Benabou
Mélanie Parisot
Patricia Blanchet
P304
P356
10.1136/JMG.2010.088526
P407
P50
P577
2011-04-13T00:00:00Z