Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. (Q54547896)

31 May 2018

title

Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. (English)

1 reference

31 May 2018

autosomal recessive polycystic kidney

main subject

0 references

9

Munnich A

1 reference

31 May 2018

Gigarel N

1

1 reference

31 May 2018

Frydman N

2

1 reference

31 May 2018

Burlet P

3

1 reference

31 May 2018

Kerbrat V

4

1 reference

31 May 2018

Tachdjian G

5

1 reference

31 May 2018

Fanchin R

6

1 reference

31 May 2018

Antignac C

7

1 reference

31 May 2018

Frydman R

8

1 reference

31 May 2018

Steffann J

10

1 reference

31 May 2018

publication date

1 January 2008

1 reference

31 May 2018

Reproductive BioMedicine Online

published in

1 reference

31 May 2018

volume

16

1 reference

31 May 2018

issue

1

1 reference

31 May 2018

page(s)

152-158

1 reference

31 May 2018

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Chromosomal mosaicism throughout human preimplantation development in vitro: incidence, type, and relevance to embryo outcome

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Single-sperm typing: determination of genetic distance between the G gamma-globin and parathyroid hormone loci by using the polymerase chain reaction and allele-specific oligomers

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Five years’ experience of preimplantation genetic diagnosis in the Parisian Center: outcome of the first 441 started cycles

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Single cell co-amplification of polymorphic markers for the indirect preimplantation genetic diagnosis of hemophilia A, X-linked adrenoleukodystrophy, X-linked hydrocephalus and incontinentia pigmenti loci on Xq28.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Diffuse renal cystic disease in children: morphologic and genetic correlations

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

The 1993-94 Généthon human genetic linkage map

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

An integrated genetic and physical map of the autosomal recessive polycystic kidney disease region

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Chromosome mosaicism in day 3 aneuploid embryos that develop to morphologically normal blastocysts in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Preimplantation HLA typing with aneuploidy testing

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Proof of principle and first cases using preimplantation genetic haplotyping--a paradigm shift for embryo diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

FISH analysis on day 5 post‐insemination of human arrested and blastocyst stage embryos

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

A second-generation linkage map of the human genome

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960569-X

7 January 2021

10.1016/S1472-6483(10)60569-X

Identifiers

DOI

1 reference

31 May 2018

PubMed ID

18252063

1 reference

31 May 2018