(Q28236573)

2

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A F Brady

3

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M van Reen

4

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M M Elsawi

5

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F Hol

6

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S Jeffery

7

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M A Patton

8

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E Mariman

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q

9

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language of work or name

English

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publication date

December 1994

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published in

Nature Genetics

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volume

8

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issue

4

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page(s)

357-60

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cites work

1 reference

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Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

21 April 2017

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The 1993-94 Généthon human genetic linkage map

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Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father

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Noonan's and DiGeorge syndromes with monosomy 22q11.

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Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus

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7 January 2021

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families

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7 January 2021

Clinical and molecular studies in a large Dutch family with Noonan syndrome

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Turner syndrome: the case of the missing sex chromosome

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7 January 2021

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

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7 January 2021

The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome)

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7 January 2021

A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12

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A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.

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A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.

1 reference

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7 January 2021

Automated construction of genetic linkage maps using an expert system (MultiMap): a human genome linkage map.

1 reference

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7 January 2021