(Q51939020)

18 April 2018

title

Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. (English)

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18 April 2018

author

Magnus Nordenskjöld

10

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18 April 2018

Wendy S Meschino

13

object named as

Wendy S Meschino

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18 April 2018

Karen Gripp

11

object named as

Karen W Gripp

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18 April 2018

author name string

Douglas R Stewart

1

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18 April 2018

Alina Huang

2

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18 April 2018

Francesca Faravelli

3

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18 April 2018

Britt-Marie Anderlid

4

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18 April 2018

Livija Medne

5

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18 April 2018

Karen Ciprero

6

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18 April 2018

Maninder Kaur

7

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18 April 2018

Elena Rossi

8

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18 April 2018

Romano Tenconi

9

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18 April 2018

Linda Nicholson

12

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18 April 2018

Esther Capua

14

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18 April 2018

Oliver W J Quarrell

15

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18 April 2018

Jonathon Flint

16

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18 April 2018

Mira Irons

17

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18 April 2018

Philip F Giampietro

18

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18 April 2018

David B Schowalter

19

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18 April 2018

Christina A Zaleski

20

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18 April 2018

Michela Malacarne

21

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18 April 2018

Elaine H Zackai

22

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18 April 2018

Nancy B Spinner

23

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18 April 2018

Ian D Krantz

24

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18 April 2018

language of work or name

English

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publication date

1 August 2004

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18 April 2018

American Journal of Medical Genetics

published in

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18 April 2018

volume

128A

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18 April 2018

issue

4

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18 April 2018

page(s)

340-351

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18 April 2018

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

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Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

21 January 2018

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How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation

21 January 2018

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Detecting rearrangements in children using subtelomeric FISH and SKY.

21 January 2018

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A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

21 January 2018

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Telomeres: a diagnosis at the end of the chromosomes

21 January 2018

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Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.

21 January 2018

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

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Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

The relationship between chromosome structure and function at a human telomeric region

21 January 2018

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Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome

21 January 2018

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Structure of chromosomal duplicons and their role in mediating human genomic disorders

21 January 2018

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Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype.

21 January 2018

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Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

A novel 5q35.3 subtelomeric deletion syndrome.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Detection of chromosomal aberrations by a whole-genome microsatellite screen

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Further delineation of the chromosome 14q terminal deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30136

Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.30136

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.30136

1 reference

18 April 2018

1 reference

18 April 2018