Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2 (Q84959056)

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12 February 2020

title

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2 (English)

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12 February 2020

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Eli S Williams

1

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12 February 2020

Kim A Uhas

2

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12 February 2020

Brian P Bunke

3

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Kathryn B Garber

4

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Christa L Martin

5

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publication date

10 September 2012

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American Journal of Medical Genetics

12 February 2020

published in

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volume

158A

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12 February 2020

issue

10

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page(s)

2616-2620

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Identification and characterization of HAOX1, HAOX2, and HAOX3, three human peroxisomal 2-hydroxy acid oxidases

12 February 2020

cites work

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12 December 2020

Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate

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12 December 2020

BMP2-mediated alteration in the developmental pathway of fetal mouse brain cells from neurogenesis to astrocytogenesis

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12 December 2020

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

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12 December 2020

Bone: formation by autoinduction

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12 December 2020

Etiology of facial clefts: prospective evaluation of 428 patients.

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12 December 2020

Organogenesis and pattern formation in the mouse: RNA distribution patterns suggest a role for bone morphogenetic protein-2A (BMP-2A)

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12 December 2020

Alagille syndrome and deletion of 20p.

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12 December 2020

Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genes.

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12 December 2020

Ectopic application of recombinant BMP-2 and BMP-4 can change patterning of developing chick facial primordia.

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12 December 2020

Bone morphogenetic proteins (BMPs) as regulators of dorsal forebrain development

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12 December 2020

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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12 December 2020

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

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12 December 2020

Development of bone morphogenetic protein receptors in the nervous system and possible roles in regulating trkC expression

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12 December 2020

Racial and ethnic variations in the prevalence of orofacial clefts in California, 1983-1992.

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12 December 2020

Multiple roles of bone morphogenetic protein signaling in the regulation of cortical cell number and phenotype

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12 December 2020

Involvement of endogenous bone morphogenetic protein (BMP) 2 and BMP6 in bone formation

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12 December 2020

Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning

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12 December 2020

Alagille syndrome with deletion 20p12.2-p12.3 and hypoplastic left heart

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12 December 2020

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

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12 December 2020

A 8.26Mb deletion in 6q16 and a 4.95Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff-Parkinson-White syndrome

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12 December 2020

Genetic interaction between Bmp2 and Bmp4 reveals shared functions during multiple aspects of mouse organogenesis

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12 December 2020

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation

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12 December 2020

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

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12 December 2020

Orofacial clefts in the National Birth Defects Prevention Study, 1997-2004

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12 December 2020

Bmp2 and Bmp4 genetically interact to support multiple aspects of mouse development including functional heart development

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12 December 2020

Novel thioredoxin-related transmembrane protein TMX4 has reductase activity.

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12 December 2020

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

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12 December 2020

BMP2 expression in the adult rat brain

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12 December 2020

Bone Morphogenetic Proteins: A critical review

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12 December 2020

Noggin antagonizes BMP signaling to create a niche for adult neurogenesis

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12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35594

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PubMed publication ID

22965927

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