(Q45163832)

10 December 2017

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome (English)

1 reference

10 December 2017

0 references

4

Katherina Walz

1 reference

10 December 2017

8

James R Lupski

1 reference

10 December 2017

Weimin Bi

1

1 reference

10 December 2017

G Mustafa Saifi

2

1 reference

10 December 2017

Christine J Shaw

3

1 reference

10 December 2017

Patricia Fonseca

5

1 reference

10 December 2017

Meredith Wilson

6

1 reference

10 December 2017

Lorraine Potocki

7

1 reference

10 December 2017

30 September 2004

1 reference

10 December 2017

1 reference

10 December 2017

115

1 reference

10 December 2017

6

1 reference

10 December 2017

515-524

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-004-1187-6

10 December 2017

0 references

cites work

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)

1 reference

12 December 2020

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

1 reference

12 December 2020

Binding protein-dependent transport systems

1 reference

12 December 2020

Extensin: repetitive motifs, functional sites, post-translational codes, and phylogeny

1 reference

12 December 2020

SREBP-1, a basic-helix-loop-helix-leucine zipper protein that controls transcription of the low density lipoprotein receptor gene

1 reference

12 December 2020

Allelic Variation in Human Gene Expression

1 reference

12 December 2020

WWW-query: an on-line retrieval system for biological sequence banks

1 reference

12 December 2020

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

1 reference

12 December 2020

A trithorax-like gene is interrupted by chromosome 11q23 translocations in acute leukaemias

1 reference

12 December 2020

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patients

1 reference

12 December 2020

Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

1 reference

12 December 2020

Structure of the PHD zinc finger from human Williams-Beuren syndrome transcription factor

1 reference

12 December 2020

Cloning and characterization of a novel sequence-specific single-stranded-DNA-binding protein

1 reference

12 December 2020

Taspase1: a threonine aspartase required for cleavage of MLL and proper HOX gene expression

1 reference

12 December 2020

The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome

1 reference

12 December 2020

MLL targets SET domain methyltransferase activity to Hox gene promoters

1 reference

12 December 2020

Interstitial deletion of (17)(p11.2p11.2): report of six additional patients with a new chromosome deletion syndrome.

1 reference

12 December 2020

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

1 reference

12 December 2020

Solution structure of the PHD domain from the KAP-1 corepressor: structural determinants for PHD, RING and LIM zinc-binding domains

1 reference

12 December 2020

ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation

1 reference

12 December 2020

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

12 December 2020

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)

1 reference

12 December 2020

When the message goes awry: disease-producing mutations that influence mRNA content and performance.

1 reference

12 December 2020

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia.

1 reference

12 December 2020

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

1 reference

12 December 2020

Mutations in RAI1 associated with Smith-Magenis syndrome.

1 reference

12 December 2020

The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome

1 reference

12 December 2020

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

1 reference

12 December 2020

Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs.

1 reference

12 December 2020

Hydroxyproline-rich glycoproteins in plant reproductive tissues: structure, functions and regulation

1 reference

12 December 2020

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients

1 reference

12 December 2020

Analysis of 14 CAG repeat-containing genes in schizophrenia.

1 reference

12 December 2020

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

1 reference

12 December 2020

Bacterial periplasmic transport systems: structure, mechanism, and evolution

1 reference

12 December 2020

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

1 reference

12 December 2020

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2).

1 reference

12 December 2020

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

12 December 2020

The PHD finger: implications for chromatin-mediated transcriptional regulation

1 reference

12 December 2020

Interstitial deletion of (17)(p11.2p11.2) in nine patients

1 reference

12 December 2020

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

1 reference

12 December 2020

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders

1 reference

12 December 2020

Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse

1 reference

12 December 2020

The nuclear factor SPBP contains different functional domains and stimulates the activity of various transcriptional activators

1 reference

12 December 2020

10.1007/S00439-004-1187-6

Identifiers

DOI

1 reference

10 December 2017

1 reference