(Q36718909)

15 August 2017

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project (English)

1 reference

15 August 2017

33

1 reference

15 August 2017

Irfan Saadi

31

0 references

Weining Lu

object named as

Weining Lu

24

0 references

Fowzan S Alkuraya

2

object named as

Fowzan S Alkuraya

1 reference

15 August 2017

11

James F Gusella

1 reference

15 August 2017

26

Marcy E MacDonald

1 reference

15 August 2017

16

Shotaro Kishikawa

1 reference

15 August 2017

6

Diana J Donovan

1 reference

15 August 2017

19

Eric Lally

1 reference

15 August 2017

35

Cynthia C Morton

1 reference

15 August 2017

20

Natalia T Leach

1 reference

15 August 2017

3

Amy F Bosco

1 reference

15 August 2017

5

Gail A P Bruns

1 reference

15 August 2017

7

Robert Eisenman

1 reference

15 August 2017

8

Yanli Fan

1 reference

15 August 2017

9

Chantal G Farra

1 reference

15 August 2017

10

Heather L Ferguson

1 reference

15 August 2017

18

Shashikant Kulkarni

1 reference

15 August 2017

21

Emma Lemyre

1 reference

15 August 2017

22

Janine Lewis

1 reference

15 August 2017

23

Azra H Ligon

1 reference

15 August 2017

28

Roxanna E Peters

1 reference

15 August 2017

Fabiola Quintero-Rivera

30

object named as

Fabiola Quintero-Rivera

1 reference

15 August 2017

Anne W Higgins

1

1 reference

15 August 2017

Kerry K Brown

4

1 reference

15 August 2017

David J Harris

12

1 reference

15 August 2017

Steven R Herrick

13

1 reference

15 August 2017

Chantal Kelly

14

1 reference

15 August 2017

Hyung-Goo Kim

15

1 reference

15 August 2017

Bruce R Korf

17

1 reference

15 August 2017

Richard L Maas

25

1 reference

15 August 2017

Steven D P Moore

27

1 reference

15 August 2017

Bradley J Quade

29

1 reference

15 August 2017

Yiping Shen

32

1 reference

15 August 2017

Robin E Williamson

34

1 reference

15 August 2017

language of work or name

English

0 references

publication date

1 March 2008

1 reference

American Journal of Human Genetics

15 August 2017

1 reference

15 August 2017

82

1 reference

15 August 2017

3

1 reference

15 August 2017

712-722

1 reference

Disruption of neurexin 1 associated with autism spectrum disorder

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Cytogenetically balanced translocations are associated with focal copy number alterations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

SUMO1 haploinsufficiency leads to cleft lip and palate

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Conserved non-genic sequences - an unexpected feature of mammalian genomes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Mechanisms of DNA double-strand break repair and their potential to induce chromosomal aberrations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

30 September 2017

DNA breakage and repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Repair of site-specific double-strand breaks in a mammalian chromosome by homologous and illegitimate recombination

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

An improved PCR method for walking in uncloned genomic DNA.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

The Functional Genomics of Noncoding RNA

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427206

Position effect in human genetic disease

4 December 2018

1 reference

12 December 2020

Detection of an interstitial deletion of 2q21-22 by high resolution comparative genomic hybridization in a child with multiple congenital anomalies and an apparent balanced translocation

1 reference

12 December 2020

Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations

1 reference

12 December 2020

Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

1 reference

12 December 2020

Rapid high-resolution karyotyping with precise identification of chromosome breakpoints

1 reference

12 December 2020

Rearrangements involving 12q in myeloproliferative disorders: possible role of HMGA2 and SOCS2 genes

1 reference

12 December 2020

10.1016/J.AJHG.2008.01.011

Identifiers

DOI

1 reference

15 August 2017

1 reference

15 August 2017

PubMed publication ID

18319076

1 reference