Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome (Q33938671)

30 July 2017

title

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome (English)

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30 July 2017

main subject

Bardet-Biedl syndrome

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26

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Martine Le Merrer

25

Martine Le Merrer

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Férechté Encha-Razavi

27

Férechté Encha-Razavi

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30 July 2017

29

Tania Attié-Bitach

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Heather Etchevers

Heather Etchevers

9

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Marie-Claire Gubler

Marie-Claire Gubler

3

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Corinne Jeanne-Pasquier

19

Corinne Jeanne-Pasquier

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30 July 2017

24

Hélène Dollfus

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30 July 2017

28

Michel Vekemans

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30 July 2017

author name string

Houda Karmous-Benailly

1

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30 July 2017

Jelena Martinovic

2

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30 July 2017

Yoann Sirot

4

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30 July 2017

Laure Clech

5

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30 July 2017

Catherine Ozilou

6

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30 July 2017

Joëlle Auge

7

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30 July 2017

Nora Brahimi

8

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30 July 2017

Eric Detrait

10

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30 July 2017

Chantal Esculpavit

11

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30 July 2017

Sophie Audollent

12

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30 July 2017

Géraldine Goudefroye

13

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30 July 2017

Marie Gonzales

14

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30 July 2017

Julia Tantau

15

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30 July 2017

Philippe Loget

16

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30 July 2017

Madeleine Joubert

17

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30 July 2017

Dominique Gaillard

18

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30 July 2017

Anne-Lise Delezoide

20

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30 July 2017

Marie-Odile Peter

21

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30 July 2017

Ghislaine Plessis

22

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30 July 2017

Brigitte Simon-Bouy

23

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30 July 2017

language of work or name

English

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publication date

21 January 2005

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American Journal of Human Genetics

30 July 2017

published in

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30 July 2017

volume

76

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30 July 2017

issue

3

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30 July 2017

page(s)

493-504

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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

30 July 2017

cites work

1 reference

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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

5 July 2018

1 reference

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Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

5 July 2018

1 reference

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The oligogenic properties of Bardet-Biedl syndrome

5 July 2018

1 reference

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Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes

5 July 2018

1 reference

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Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

5 July 2018

1 reference

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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

5 July 2018

1 reference

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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Mutations in MKKS cause Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

A gene for Meckel syndrome maps to chromosome 11q13.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Autosomal recessive diseases among Palestinian Arabs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Cerebro-reno-digital syndrome in two sibs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Autosomal recessive disorders among Arabs: an overview from Kuwait

5 July 2018

1 reference

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Dandy-Walker malformation in the Meckel syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Dandy-Walker syndrome: analysis of 21 cases

5 July 2018

1 reference

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The Meckel syndrome: clinicopathological findings in 67 patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

The Dandy-Walker syndrome. A clinicopathological study based on 28 cases.

5 July 2018

1 reference

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Pathology of renal and hepatic anomalies in Meckel syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

The cerebro-reno-digital syndromes: a new community

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct syndrome?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Meckel's syndrome: an unusual pedigree

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

NEONATAL POLYCYSTIC KIDNEY WITH BRAIN DEFECT.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

THE DANDY-WALKER SYNDROME

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Goldston syndrome: report of a case.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Goldston syndrome reconsidered.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1196400

Dandy-Walker malformation with postaxial polydactyly: a new syndrome?

29 October 2018

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12 December 2020

Dandy-Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: a distinct entity or Meckel syndrome?

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12 December 2020

Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome

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12 December 2020

Meckel syndrome and Dandy Walker malformation

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12 December 2020

Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases

1 reference

12 December 2020

Dandy-Walker anomaly in Meckel-Gruber syndrome

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12 December 2020

Antenatal renal sonographic anomalies and postnatal follow-up of renal involvement in Bardet-Biedl syndrome

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12 December 2020

Familial renal dysplasia. Microdissection studies in siblings with associated central nervous system and hepatic malformations

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12 December 2020

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly"

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12 December 2020

The Goldston syndrome: report of a case

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12 December 2020

Identifiers

DOI

10.1086/428679

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30 July 2017

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30 July 2017

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