Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery. (Q41965446)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19429598%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

title

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery (English)

1 reference

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27 January 2020

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Andrew Oliver Mungo Wilkie

7

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27 January 2020

Henk Giele

6

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27 January 2020

author name string

D Furniss

1

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27 January 2020

S-H Kan

2

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27 January 2020

I B Taylor

3

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27 January 2020

D Johnson

4

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27 January 2020

P S Critchley

5

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27 January 2020

language of work or name

English

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publication date

7 May 2009

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Journal of Medical Genetics

27 January 2020

published in

1 reference

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27 January 2020

volume

46

1 reference

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27 January 2020

issue

11

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27 January 2020

page(s)

730-735

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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

27 January 2020

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Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

5 June 2018

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What you can learn from one gene: GLI3

5 June 2018

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The vertebrate spalt genes in development and disease

5 June 2018

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Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities

5 June 2018

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TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.

5 June 2018

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A twist code determines the onset of osteoblast differentiation

5 June 2018

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Genetic disorders of the skeleton: a developmental approach

5 June 2018

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Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

5 June 2018

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A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

5 June 2018

1 reference

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Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

5 June 2018

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

5 June 2018

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

5 June 2018

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

5 June 2018

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Smoking during pregnancy and congenital limb deficiency

5 June 2018

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

5 June 2018

1 reference

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Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

27 July 2018

1 reference

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A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation.

18 August 2018

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Sprouty2 and Sprouty4 are essential for embryonic morphogenesis and regulation of FGF signaling.

18 August 2018

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Pre- and postnatal diagnosis of limb anomalies: a series of 107 cases.

18 August 2018

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

18 August 2018

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The incidence and epidemiology of congenital upper limb anomalies: a total population study

18 August 2018

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Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly.

18 August 2018

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Nonsense-mediated decay and the molecular pathogenesis of mutations inSALL1 andGLI3

18 August 2018

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Interactions between dorsal-ventral patterning genes lmx1b, engrailed-1 and wnt-7a in the vertebrate limb

30 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19429598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Nosology and classification of genetic skeletal disorders: 2006 revision

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19429598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19429598

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2009.066027

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19429598%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

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27 January 2020

PubMed publication ID

19429598

1 reference