(Q41099724)

26 September 2017

title

Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs (English)

1 reference

26 September 2017

main subject

Wolf-Hirschhorn syndrome

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Altherr MR

1

1 reference

26 September 2017

Wright TJ

2

1 reference

26 September 2017

Denison K

3

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26 September 2017

Perez-Castro AV

4

1 reference

26 September 2017

Johnson VP

5

1 reference

26 September 2017

publication date

1 July 1997

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American Journal of Medical Genetics Part A

26 September 2017

published in

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26 September 2017

volume

71

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26 September 2017

issue

1

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26 September 2017

page(s)

47-53

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Molecular detection of a 4p deletion using PCR-based polymorphisms: a technique for the rapid detection of the Wolf-Hirschhorn syndrome

26 September 2017

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Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene

21 January 2018

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Nonrandom association between Huntington disease and two loci separated by about 3 Mb on 4p16.3.

21 January 2018

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A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

21 January 2018

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Molecular characterisation of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome

21 January 2018

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Preliminary phenotypic map of chromosome 4p16 based on 4p deletions.

21 January 2018

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Interstitial deletion of distal chromosome 4p in a patient without classical Wolf-Hirschhorn syndrome.

21 January 2018

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Long-range mapping of gaps and telomeres with RecA-assisted restriction endonuclease (RARE) cleavage

21 January 2018

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A DNA segment encoding two genes very tightly linked to Huntington's disease

21 January 2018

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Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

21 January 2018

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Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region

21 January 2018

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

21 January 2018

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Structure and sequence of the human homeobox gene HOX7.

21 January 2018

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

21 January 2018

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Identification of genes within CpG-enriched DNA from human chromosome 4p16.3.

21 January 2018

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Isolation of an additional member of the fibroblast growth factor receptor family, FGFR-3

21 January 2018

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High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

21 January 2018

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Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans

21 January 2018

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Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis

21 January 2018

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Characterization of a human chromosome 4 flow-sorted cosmid library

21 January 2018

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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

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A transcription map of the region containing the Huntington disease gene

21 January 2018

1 reference

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Contiguous gene syndromes: a component of recognizable syndromes

21 January 2018

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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

21 January 2018

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The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library

21 January 2018

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PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

21 January 2018

1 reference

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

21 January 2018

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A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

21 January 2018

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A zinc-finger gene ZNF141 mapping at 4p16.3/D4S90 is a candidate gene for the Wolf-Hirschhorn (4p-) syndrome

21 January 2018

1 reference

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Mapping of cosmid clones in Huntington's disease region of chromosome 4.

21 January 2018

1 reference

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Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation

21 January 2018

1 reference

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Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of human chromosome 4.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970711%2971%3A1%3C47%3A%3AAID-AJMG9%3E3.0.CO%3B2-N

Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970711%2971%3A1%3C47%3A%3AAID-AJMG9%3E3.0.CO%3B2-N

FISH detection of Wolf-Hirschhorn syndrome: exclusion of D4F26 as critical site

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970711%2971%3A1%3C47%3A%3AAID-AJMG9%3E3.0.CO%3B2-N

The Wolf-Hirschhorn syndrome. I. Genetics.

21 January 2018

1 reference

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Genetic and physical maps of human chromosome 4 based on dinucleotide repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970711%2971%3A1%3C47%3A%3AAID-AJMG9%3E3.0.CO%3B2-N

Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)]

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819970711%2971%3A1%3C47%3A%3AAID-AJMG9%3E3.0.CO%3B2-N

Report on trisomies 18 and a trisomy 18 mosaicism

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19970711)71:1<47::AID-AJMG9>3.0.CO;2-N

21 January 2018

Identifiers

DOI

1 reference

26 September 2017

1 reference