(Q34388906)

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Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9973291%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27 (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9973291%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

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11 December 2019

Hans van Bokhoven

1

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11 December 2019

Maurice van Steensel

6

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11 December 2019

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Jung M

2

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11 December 2019

Smits AP

3

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11 December 2019

van Beersum S

4

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11 December 2019

Rüschendorf F

5

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11 December 2019

Veenstra M

7

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11 December 2019

Tuerlings JH

8

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11 December 2019

Mariman EC

9

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11 December 2019

Brunner HG

10

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11 December 2019

Wienker TF

11

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11 December 2019

Ropers HH

13

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11 December 2019

Hamel BC

14

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11 December 2019

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1 February 1999

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11 December 2019

American Journal of Human Genetics

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11 December 2019

64

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11 December 2019

2

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11 December 2019

538-546

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9973291%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Mutation in GLI3 in postaxial polydactyly type A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Limb mutants: what can they tell us about normal limb development?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Mutation of HOXA13 in hand-foot-genital syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

cDNA characterization and chromosomal mapping of two human homologues of the Drosophila dishevelled polarity gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Limbs: a model for pattern formation within the vertebrate body plan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

EEC syndrome and genitourinary anomalies: an update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

The EEC syndrome: a literature study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

The mouse Engrailed-1 gene and ventral limb patterning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

A human chondrodysplasia due to a mutation in a TGF-beta superfamily member

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Twenty-four cases of the EEC syndrome: clinical presentation and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

A mutation in the gene encoding the alpha 2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Sonic hedgehog mediates the polarizing activity of the ZPA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

FGF-4 replaces the apical ectodermal ridge and directs outgrowth and patterning of the limb

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Differential temporal and spatial gene expression of fibroblast growth factor family members during mouse mammary gland development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

A positive feedback loop coordinates growth and patterning in the vertebrate limb.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

The cDNA sequence and chromosomal location of the human SOX2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Interaction between the signaling molecules WNT7a and SHH during vertebrate limb development: dorsal signals regulate anteroposterior patterning.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Vertebrate limb development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Easy calculations of lod scores and genetic risks on small computers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

EEC syndrome: report on 20 new patients, clinical and genetic considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

6 July 2018

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

28 July 2018

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

27 October 2018

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

27 October 2018

Roles for FGF8 in the induction, initiation, and maintenance of chick limb development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377763

27 October 2018

The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hyping up the letdown gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sonic hedgehog and Fgf-4 act through a signaling cascade and feedback loop to integrate growth and patterning of the developing limb bud

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classification of limb defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/9973291

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9973291%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9973291%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9973291%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

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