(Q27339890)

35

0 references

Lihadh Al-Gazali

Gabriele Gillessen-Kaesbach

5

0 references

32

0 references

Dagmar Wieczorek

34

0 references

Raoul Hennekam

25

Raoul Hennekam

0 references

Malcolm E Fisher

Malcolm Fisher

9

0 references

Livia Garavelli

Livia Garavelli

28

0 references

Ian J. Jackson

Ian J Jackson

31

0 references

David R. FitzPatrick

David R Fitzpatrick

36

0 references

Philippe Gautier

12

Philippe Gautier

0 references

Han G. Brunner

33

Han G Brunner

0 references

Louise Bicknell

11

Louise Bicknell

0 references

Andrea Superti-Furga

29

Andrea Superti Furga

0 references

Joe Rainger

Joe Rainger

1

0 references

André Mégarbané

Andre Mégarbané

21

0 references

author name string

Ellen van Beusekom

2

0 references

Jacqueline K Ramsay

3

0 references

Lisa McKie

4

0 references

Rosanna Pallotta

6

0 references

Anita Saponari

7

0 references

Peter Branney

8

0 references

Harris Morrison

10

0 references

Paul Perry

13

0 references

Kishan Sokhi

14

0 references

David Sexton

15

0 references

Tanya M Bardakjian

16

0 references

Adele S Schneider

17

0 references

Nursel Elcioglu

18

0 references

Ferda Ozkinay

19

0 references

Rainer Koenig

20

0 references

C Nur Semerci

22

0 references

Ayesha Khan

23

0 references

Saemah Zafar

24

0 references

Sérgio B Sousa

26

0 references

Lina Ramos

27

0 references

Anita Wischmeijer

Creative Commons Attribution 4.0 International

30

0 references

language of work or name

English

0 references

publication date

July 2011

0 references

published in

PLOS Genetics

0 references

volume

7

0 references

issue

7

0 references

page(s)

e1002114

0 references

copyright license

start time

7 July 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

SMOC1 is essential for ocular and limb development in humans and mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Cathespin H is an Fgf10 target involved in Bmp4 degradation during lung branching morphogenesis

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Heterozygous mutations of OTX2 cause severe ocular malformations

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Characterization of SMOC-2, a modular extracellular calcium-binding protein

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

BMP4 is essential for lens induction in the mouse embryo

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Bone morphogenetic protein receptors and signal transduction

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

The Decapentaplegic morphogen gradient: from pattern formation to growth regulation

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Regulation of cell proliferation by a morphogen gradient

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Skeletal abnormalities in doubly heterozygous Bmp4 and Bmp7 mice

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome

21 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Regulation of organ growth by morphogen gradients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Recent advances in BMP receptor signaling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Human BAMBI cooperates with Smad7 to inhibit transforming growth factor-beta signaling.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Xenopus SMOC-1 Inhibits bone morphogenetic protein signaling downstream of receptor binding and is essential for postgastrulation development in Xenopus

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

EUCOMM--the European conditional mouse mutagenesis program.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Bone morphogenetic protein signaling in limb outgrowth and patterning

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

The bone morphogenetic protein 1/Tolloid-like metalloproteinases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Spemann's organizer and self-regulation in amphibian embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

The interpretation of morphogen gradients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

p38MAPK acts in the BMP7-dependent stimulatory pathway during epithelial cell morphogenesis and is regulated by Smad1.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Mutations in SOX2 cause anophthalmia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Ophthalmo-acromelic syndrome: report and review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

SOX2 anophthalmia syndrome.

2 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Twisted gastrulation is required for forebrain specification and cooperates with Chordin to inhibit BMP signaling during X. tropicalis gastrulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Crossveinless-2 Is a BMP feedback inhibitor that binds Chordin/BMP to regulate Xenopus embryonic patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Characterization of SMOC-1, a novel modular calcium-binding protein in basement membranes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Thyroglobulin type-I-like domains in invariant chain fusion proteins mediate resistance to cathepsin L digestion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Individual recombinant thyroglobulin type-1 domains are substrates for lysosomal cysteine proteinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Inhibition of Sonic hedgehog signaling leads to posterior digit loss in Ambystoma mexicanum: parallels to natural digit reduction in urodeles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Integration of growth and specification in chick wing digit-patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Control of Dpp morphogen signalling by a secreted feedback regulator

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

In the limb AER Bmp2 and Bmp4 are required for dorsal-ventral patterning and interdigital cell death but not limb outgrowth

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

BMP signals control limb bud interdigital programmed cell death by regulating FGF signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

A syndrome with true anophthalmia, hand-foot defects and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002114

Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131273

Ophthalmo-acromelic syndrome: report of a case with vertebral anomalies

27 November 2018

1 reference

12 December 2020

Pierre Robin sequence with unilateral anophthalmia and lower limb oligodactyly: an unusual presentation of ophthalmoacromelic syndrome?

1 reference

12 December 2020

A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

1 reference

12 December 2020

Waardenburg anophthalmia syndrome: report and review

1 reference

12 December 2020

Ophthalmoacromelic syndrome: two further cases expanding the phenotype

1 reference

12 December 2020

Ophthalmo-acromelic syndrome in a Turkish infant: case report

1 reference

12 December 2020

Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg

1 reference

12 December 2020

Waardenburg's recessive anophthalmia syndrome

1 reference

12 December 2020

A syndrome with true anophthalmia, hand-foot defects and mental retardation

1 reference

12 December 2020

Ophthalmo-acromelic syndrome

1 reference

12 December 2020

Microphthalmia and distal limb abnormalities in a child of consanguineous parents

1 reference

12 December 2020

Ophthalmo acromelic syndrome

1 reference

12 December 2020

Anophthalmia-Waardenburg syndrome: a report of three cases

1 reference

12 December 2020

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly

1 reference

12 December 2020

Diversity and evolution of the thyroglobulin type-1 domain superfamily

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1002114

Identifiers

DOI

1 reference

2170344

2170344

1 reference

1 reference

1 reference