(Q34328696)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19844256%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12 (English)

1 reference

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10 February 2020

3

1 reference

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10 February 2020

12

Pawel Stankiewicz

1 reference

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10 February 2020

7

Lefkothea Karaviti

1 reference

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10 February 2020

author name string

Sandesh Chakravarthy Sreenath Nagamani

1

1 reference

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10 February 2020

Ayelet Erez

2

1 reference

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10 February 2020

Chumei Li

4

1 reference

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10 February 2020

Elizabeth Roeder

5

1 reference

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10 February 2020

Sarah Cox

6

1 reference

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10 February 2020

Margret Pearson

8

1 reference

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10 February 2020

Sung-Hae L Kang

9

1 reference

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10 February 2020

Trilochan Sahoo

10

1 reference

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10 February 2020

Seema R Lalani

11

1 reference

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10 February 2020

V Reid Sutton

13

1 reference

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10 February 2020

Sau Wai Cheung

14

1 reference

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10 February 2020

publication date

21 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19844256%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

10 February 2020

published in

1 reference

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10 February 2020

volume

18

1 reference

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10 February 2020

issue

3

1 reference

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10 February 2020

page(s)

278-284

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2009.174

10 February 2020

exact match

0 references

cites work

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

LIM-homeodomain proteins Lhx1 and Lhx5, and their cofactor Ldb1, control Purkinje cell differentiation in the developing cerebellum

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Requirement for Lim1 in head-organizer function

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987224

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

6 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.174

Private inherited microdeletion/microduplications: implications in clinical practice.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.174

Anomalies of the TCF2 Gene Are the Main Cause of Fetal Bilateral Hyperechogenic Kidneys

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2009.174

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19844256

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19844256

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.174

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19844256%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19844256%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

19844256

1 reference