(Q34327062)

1 August 2017

title

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog (English)

1 reference

1 August 2017

0 references

Lemuel Racacho

2

0 references

Dennis E Bulman

object named as

Dennis E Bulman

11

0 references

Louanne Hudgins

4

object named as

Louanne Hudgins

1 reference

1 August 2017

Ashley M Byrnes

1

1 reference

1 August 2017

Allison Grimsey

3

1 reference

1 August 2017

Andrea C Kwan

5

1 reference

1 August 2017

Michel Sangalli

6

1 reference

1 August 2017

Alexa Kidd

7

1 reference

1 August 2017

Yuval Yaron

8

1 reference

1 August 2017

Yu-Lung Lau

9

1 reference

1 August 2017

Sarah M Nikkel

10

1 reference

1 August 2017

publication date

11 March 2009

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

1 reference

1 August 2017

issue

9

1 reference

1 August 2017

page(s)

1112-1120

1 reference

A periodic pattern generator for dental diversity

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

A locus for brachydactyly type A-1 maps to chromosome 2q35-q36.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

A newly recognized dwarfing syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Cryptodontic brachymetacarpalia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.18

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.18

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.18

Restriction of sonic hedgehog signalling during early tooth development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.18

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.18

Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.18

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986602

A boy with severe manifestations of type A1 brachydactyly

27 October 2018

1 reference

12 December 2020

Brachydactyly type A1 with abnormal menisci and scoliosis in three generations

1 reference

12 December 2020

FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED

1 reference

12 December 2020

A century later Farabee has his mutation

1 reference

12 December 2020

A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family

1 reference

12 December 2020

Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene

1 reference

12 December 2020

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2009.18

1 reference

1 August 2017

1 reference

1 August 2017

1 reference