(Q24534315)

5

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Giuseppe Martucciello

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author name string

G Martucciello

2

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D Verderio

3

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E Ponti

4

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V Jasonni

6

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M Torre

7

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M Ferrari

8

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L C Tsui

9

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S W Scherer

American Journal of Human Genetics

10

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language of work or name

English

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publication date

January 2000

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published in

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volume

66

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issue

1

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page(s)

312-9

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cites work

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Modification of enzymatically amplified DNA for the detection of point mutations.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

The genetics of anorectal malformations: a complex matter

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Pancreas dorsal lobe agenesis and abnormal islets of Langerhans in Hlxb9-deficient mice

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

Triad of anorectal, sacral, and presacral anomalies

29 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288336

29 November 2018

https://api.crossref.org/works/10.1086%2F302723

7 January 2021

inferred from DOI database lookup

Caudal mesoderm pattern of anomalies: from renal agenesis to sirenomelia

1 reference

12 December 2020

Multidisciplinary management of caudal regression syndrome (26 cases)

1 reference

12 December 2020

Anorectal malformations

1 reference

12 December 2020

Double-gradient DGGE for optimized detection of DNA point mutations

1 reference

12 December 2020

Validation of double gradient denaturing gradient gel electrophoresis through multigenic retrospective analysis

1 reference

12 December 2020

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

1 reference

12 December 2020

Identifiers

DOI

10.1086/302723

1 reference

1 reference

1 reference

PubMed publication ID

10631160

1 reference