Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases-Reference-Cited by-同舟云学术

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Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

Published:2015-10-14 Issue:12 Volume:35 Page:1265-1267
ISSN:0197-3851
Container-title:Prenatal Diagnosis
language:en
Short-container-title:Prenat Diagn

Author:

Yap Patrick¹²,McGillivray George¹²,Norris Fiona¹,Said Joanne M.²³⁴,Kornman Louise²,Stark Zornitza¹³

Affiliation:

1. Victorian Clinical Genetics Services; Murdoch Childrens Research Institute; Melbourne Australia

2. Fetal Medicine Unit; Royal Women's Hospital; Melbourne Australia

3. Maternal Fetal Medicine; Sunshine Hospital, Western Health; Melbourne Australia

4. NorthWest Academic Centre; The University of Melbourne; Melbourne Australia

Publisher

Wiley

Subject

Genetics(clinical),Obstetrics and Gynaecology

Reference10 articles.

1. SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia;Stark;Am J Med Genet A,2015

2. Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case;Palumbo;Gene,2014

3. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome;Laffargue;Arch Dis Child,2015

4. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys;Decramer;J Am Soc Nephrol,2007

5. Prenatal diagnosis of 17q12 duplication and deletion syndrome in two foetuses with congenital anomalies;Li;Taiwan J Obstet Gynecol,2014

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1. Prenatal diagnosis of 17q12 copy number variants in fetuses via chromosomal microarray analysis - A retrospective cohort study and literature review;Heliyon;2024-09

2. Prenatal diagnosis and family analysis of 17q12 microdeletion syndrome with fetal renal abnormalities;Frontiers in Genetics;2024-06-18

3. Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion;Taiwanese Journal of Obstetrics and Gynecology;2024-01

4. Renal and extra‐renal phenotypes in a fetus with a de novo pathogenic variant in the HNF1B gene;Prenatal Diagnosis;2023-12-23

5. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions;Prenatal Diagnosis;2023-08-26

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