CNV analysis in 169 patients with bladder exstrophy-epispadias complex (Q36006429)

11 August 2017

CNV analysis in 169 patients with bladder exstrophy-epispadias complex (English)

1 reference

11 August 2017

Massimo Di Grazia

14

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Alfredo Brusco

object named as

Alfredo Brusco

12

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Markus M Nöthen

object named as

Markus M Nöthen

16

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Susanne Moebus

15

object named as

Susanne Moebus

1 reference

11 August 2017

Catharina von Lowtzow

1

1 reference

11 August 2017

Andrea Hofmann

2

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11 August 2017

Rong Zhang

3

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11 August 2017

Florian Marsch

4

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11 August 2017

Anne-Karoline Ebert

5

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11 August 2017

Wolfgang Rösch

6

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11 August 2017

Raimund Stein

7

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11 August 2017

Thomas M Boemers

8

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11 August 2017

Karin Hirsch

9

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11 August 2017

Carlo Marcelis

10

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11 August 2017

Wouter F J Feitz

11

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11 August 2017

Nicola Migone

13

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11 August 2017

Heiko Reutter

17

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11 August 2017

Michael Ludwig

18

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11 August 2017

Markus Draaken

19

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11 August 2017

30 April 2016

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11 August 2017

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17

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1

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35

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https://scigraph.springernature.com/pub.10.1186/s12881-016-0299-x

11 August 2017

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cites work

Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy

1 reference

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Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.

2 October 2017

1 reference

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Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Expression analysis of ATAD3 isoforms in rodent and human cell lines and tissues.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

2 October 2017

1 reference

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New insights into the pathogenesis of bladder exstrophy-epispadias complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Atad3 function is essential for early post-implantation development in the mouse

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

The UCSC Genome Browser database: extensions and updates 2013.

2 October 2017

1 reference

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Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Identification of de novo copy number variants associated with human disorders of sexual development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

The exstrophy-epispadias complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Bladder exstrophy-epispadias complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Copy-number variation in control population cohorts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Germ-line DNA copy number variation frequencies in a large North American population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Global variation in copy number in the human genome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

2 October 2017

1 reference

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Assessment of clinically silent atherosclerotic disease and established and novel risk factors for predicting myocardial infarction and cardiac death in healthy middle-aged subjects: rationale and design of the Heinz Nixdorf RECALL Study. Risk Facto

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Cloacal exstrophy: a report of 34 cases.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Phenotypic and cytogenetic analysis of an unusual malformative syndrome (trisomy 9 p+)

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Bladder exstrophy and extreme genital anomaly in a patient with pure terminal 1q deletion: expansion of phenotypic spectrum.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

A case with bladder exstrophy and unbalanced X chromosome rearrangement.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4852408

Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy

23 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-016-0299-X

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-016-0299-X

Chromosome deletions in 13q33–34: Report of four patients and review of the literature

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS12881-016-0299-X

Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: an analysis of 709,030 births in 12 European countries

21 January 2018

1 reference

12 December 2020

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

1 reference

12 December 2020

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

1 reference

12 December 2020

Frontonasal malformation and cloacal exstrophy: a previously unreported association

1 reference

12 December 2020

Anatomical correction of the exstrophy-epispadias complex: analysis of 34 patients

1 reference

12 December 2020

Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family

1 reference

12 December 2020

OEIS complex with del(3)(q12.2q13.2)

1 reference

12 December 2020

10.1186/S12881-016-0299-X

Identifiers

DOI

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

1 reference