(Q41203219)

28 September 2017

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality (English)

1 reference

28 September 2017

Veronica van Heyningen

14

1 reference

28 September 2017

16

1 reference

28 September 2017

L Harewood

10

0 references

Judith A Goodship

6

object named as

J A Goodship

1 reference

28 September 2017

J A Fantes

1

1 reference

28 September 2017

E Boland

2

1 reference

28 September 2017

J Ramsay

3

1 reference

28 September 2017

D Donnai

4

1 reference

28 September 2017

M Splitt

5

1 reference

28 September 2017

H Stewart

7

1 reference

28 September 2017

M Whiteford

8

1 reference

28 September 2017

P Gautier

9

1 reference

28 September 2017

S Holloway

11

1 reference

28 September 2017

F Sharkey

12

1 reference

28 September 2017

E Maher

13

1 reference

28 September 2017

J Clayton-Smith

15

1 reference

28 September 2017

G C M Black

17

1 reference

28 September 2017

language of work or name

English

0 references

publication date

27 March 2008

1 reference

American Journal of Human Genetics

28 September 2017

1 reference

28 September 2017

82

1 reference

28 September 2017

4

1 reference

28 September 2017

916-926

1 reference

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Integration of the cytogenetic map with the draft human genome sequence

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Mutations in SOX2 cause anophthalmia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Haploinsufficiency of NSD1 causes Sotos syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Evaluation of gene-finding programs on mammalian sequences

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Isolation of a partial candidate gene for Menkes disease by positional cloning

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Chromosome bands--flavours to savour

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Distribution of break points in human structural rearrangements.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Outcome of de novo balanced translocations ascertained prenatally

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

On the excess of mental retardation and/or congenital malformations in apparently balanced reciprocal translocations. A critical review of the Leuven data 1966-1991

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Nonrandom distribution of exchange points in patients with structural rearrangements

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Mental retardation associated with "balanced" chromosome rearrangements

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Chromosome survey of total population of mentally subnormal in North-East of Scotland

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Follow-up of 32 children with autosomal translocations found among 11,148 consecutively newborn children from 1969 to 1974.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Identification of translocation chromosomes by quinacrine fluorescence.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

SOX2 anophthalmia syndrome.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

Detection of deletions in de novo "balanced" chromosome rearrangements: further evidence for their role in phenotypic abnormalities.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2491339

A new technic of analysis of the human karyotype

19 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18374296

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assignment of aberration breakpoints in banded chromosomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18374296

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High-resolution ideograms of trypsin-Giemsa banded human chromosomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18374296

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.02.007

1 reference

28 September 2017

1 reference

28 September 2017

PubMed publication ID

18374296

1 reference