(Q35546481)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1. (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

4

1 reference

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17 January 2020

Lisa A Schimmenti

12

1 reference

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17 January 2020

Neil R Friedman

13

1 reference

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17 January 2020

author name string

A Theisen

1

1 reference

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17 January 2020

J A Rosenfeld

2

1 reference

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17 January 2020

K Shane

3

1 reference

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17 January 2020

J F Atkin

5

1 reference

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17 January 2020

C Gaba

6

1 reference

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17 January 2020

J Hoo

7

1 reference

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17 January 2020

T W Kurczynski

8

1 reference

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17 January 2020

R E Schnur

9

1 reference

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17 January 2020

L B Coffey

10

1 reference

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17 January 2020

E H Zackai

11

1 reference

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17 January 2020

M Zabukovec

14

1 reference

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17 January 2020

S Ball

15

1 reference

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17 January 2020

R Pagon

16

1 reference

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17 January 2020

A Lucas

17

1 reference

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17 January 2020

C K Brasington

18

1 reference

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17 January 2020

J E Spence

19

1 reference

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17 January 2020

S Sparks

20

1 reference

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17 January 2020

V Banks

21

1 reference

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17 January 2020

W Smith

22

1 reference

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17 January 2020

T Friedberg

23

1 reference

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17 January 2020

P R Wyatt

24

1 reference

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17 January 2020

M Aust

25

1 reference

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17 January 2020

R Tervo

26

1 reference

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17 January 2020

A Crowley

27

1 reference

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17 January 2020

D Skidmore

28

1 reference

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17 January 2020

A N Lamb

29

1 reference

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17 January 2020

B Ravnan

30

1 reference

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17 January 2020

T Sahoo

31

1 reference

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17 January 2020

R Schultz

32

1 reference

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17 January 2020

B S Torchia

33

1 reference

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17 January 2020

M Sgro

34

1 reference

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17 January 2020

D Chitayat

35

1 reference

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17 January 2020

L G Shaffer

36

1 reference

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17 January 2020

publication date

1 January 2010

1 reference

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17 January 2020

published in

Molecular syndromology

1 reference

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17 January 2020

volume

1

1 reference

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17 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

262-271

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

17 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Dlx homeobox gene family expression in osteoclasts.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

The DLX1and DLX2 genes and susceptibility to autism spectrum disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Expression and function of Dlx genes in the osteoblast lineage

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Dlx1 and Dlx2 control neuronal versus oligodendroglial cell fate acquisition in the developing forebrain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Dlx transcription factors promote migration through repression of axon and dendrite growth

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

2q24-q31 deletion: report of a case and review of the literature

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Pathogenesis of split-hand/split-foot malformation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Limb malformations and the human HOX genes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Role of the Dlx homeobox genes in proximodistal patterning of the branchial arches: mutations of Dlx-1, Dlx-2, and Dlx-1 and -2 alter morphogenesis of proximal skeletal and soft tissue structures derived from the first and second arches

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: case report and review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Null mutation of Dlx-2 results in abnormal morphogenesis of proximal first and second branchial arch derivatives and abnormal differentiation in the forebrain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Physiological implications of DLX homeoproteins in enamel formation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Dlx homeobox genes promote cortical interneuron migration from the basal forebrain by direct repression of the semaphorin receptor neuropilin-2.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

An acceptor splice site mutation in HOXD13 results in variable hand, but consistent foot malformations.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3214950

Pure monosomy and trisomy 2q24.2----q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

26 September 2018

1 reference

12 December 2020

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

1 reference

12 December 2020

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome

1 reference

12 December 2020

Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus

1 reference

12 December 2020

Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy

1 reference

12 December 2020

Generalized epilepsy with febrile seizures plus: novel SCN1A mutation

1 reference

12 December 2020

Interstitial deletion del(2)(q24q31) with a phenotype similar to del(2)(q31q33)

1 reference

12 December 2020

Identifiers

DOI

10.1159/000328405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22140379%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

22140379

1 reference