(Q82609088)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Sulagna C Saitta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Andrew J Gentles

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Lindsey Campbell

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Karen Ciprero

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Elizabeth Geiger

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Anne Catherwood

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Jill A Rosenfeld

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Tamim Shaikh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Lisa G Shaffer

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 December 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

152A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

3074-3083

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

Mutations in sarcomere protein genes in left ventricular noncompaction

17 January 2020

cites work

1 reference

12 December 2020

Rac/Rho pathway regulates actin depolymerization induced by aminoglycoside antibiotics

1 reference

12 December 2020

BLAT—The BLAST-Like Alignment Tool

1 reference

12 December 2020

Population data suggest that deletions of 1p36 are a relatively common chromosome abnormality

1 reference

12 December 2020

Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1

1 reference

12 December 2020

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

1 reference

12 December 2020

Left ventricular noncompaction: a rare disorder in adults and its association with 1p36 chromosomal anomaly

1 reference

12 December 2020

Hearing loss: mechanisms revealed by genetics and cell biology

1 reference

12 December 2020

Tandem repeats finder: a program to analyze DNA sequences

1 reference

12 December 2020

Nonhomologous Robertsonian translocations form predominantly during female meiosis

1 reference

12 December 2020

Non-B DNA conformations, genomic rearrangements, and human disease

1 reference

12 December 2020

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?

1 reference

12 December 2020

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

1 reference

12 December 2020

Prdm16 is required for normal palatogenesis in mice

1 reference

12 December 2020

Hes1 and Hes5 activities are required for the normal development of the hair cells in the mammalian inner ear

1 reference

12 December 2020

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

12 December 2020

Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriers.

1 reference

12 December 2020

Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.

1 reference

12 December 2020

Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation

1 reference

12 December 2020

EMBOSS: the European Molecular Biology Open Software Suite

1 reference

12 December 2020

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

1 reference

12 December 2020

Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected

1 reference

12 December 2020

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

12 December 2020

A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders

1 reference

12 December 2020

Breakpoints of gross deletions coincide with non-B DNA conformations

1 reference

12 December 2020

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

1 reference

12 December 2020

DNA structures at chromosomal translocation sites

1 reference

12 December 2020

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

1 reference

12 December 2020

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

1 reference

12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

1 reference

12 December 2020

Protein kinase C zeta. A novel regulator of both phosphorylation and de-phosphorylation of cardiac sarcomeric proteins

1 reference

12 December 2020

Del 1p36 syndrome: a newly emerging clinical entity

1 reference

12 December 2020

Identification of two cDNAs for human actin-related proteins (Arps) that have remarkable similarity to conventional actin

1 reference

12 December 2020

The Jalview Java alignment editor

1 reference

12 December 2020

Molecular characterization of de novo secondary trisomy 13.

1 reference

12 December 2020

Monosomy 1p36 deletion syndrome.

1 reference

12 December 2020

Multifaceted role of Rho, Rac, Cdc42 and Ras in intercellular junctions, lessons from toxins

1 reference

12 December 2020

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

1 reference

12 December 2020

Hes5 expression in the postnatal and adult mouse inner ear and the drug-damaged cochlea.

1 reference

12 December 2020

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends

1 reference

12 December 2020

Left-ventricular non-compaction in a patient with monosomy 1p36

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33733

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21108392%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

21108392

1 reference