(Q34561288)

3 August 2017

title

A 360-kb interchromosomal duplication of the human HYDIN locus (English)

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3 August 2017

Gary Xie

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Cliff Han

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Norman A Doggett

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3 August 2017

Linda J Meincke

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3 August 2017

Robert D Sutherland

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3 August 2017

Mark O Mundt

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3 August 2017

Nicolas S Berbari

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3 August 2017

Brian E Davy

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3 August 2017

Michael L Robinson

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3 August 2017

M Katharine Rudd

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3 August 2017

James L Weber

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3 August 2017

Raymond L Stallings

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3 August 2017

language of work or name

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30 August 2006

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3 August 2017

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3 August 2017

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3 August 2017

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3 August 2017

page(s)

762-771

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Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene

3 August 2017

cites work

1 reference

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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

7 January 2021

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X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

7 January 2021

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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

7 January 2021

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7 January 2021

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The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors

7 January 2021

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An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

7 January 2021

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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

7 January 2021

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A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders

7 January 2021

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Members of the olfactory receptor gene family are contained in large blocks of DNA duplicated polymorphically near the ends of human chromosomes

7 January 2021

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Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster

7 January 2021

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Interchromosomal repeat array interactions between chromosomes 4 and 10: a model for subtelomeric plasticity

7 January 2021

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7 January 2021

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7 January 2021

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Birth of 'human-specific' genes during primate evolution

7 January 2021

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Congenital hydrocephalus: nosology and guidelines for clinical approach and genetic counselling

7 January 2021

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Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling

7 January 2021

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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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BLAST 2 Sequences, a new tool for comparing protein and nucleotide sequences

7 January 2021

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

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3 August 2017

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