(Q34188569)

31 July 2017

A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21. (English)

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31 July 2017

Simeon A Boyadjiev

1

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31 July 2017

Cristina M Justice

2

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31 July 2017

Wafaa Eyaid

3

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31 July 2017

Victor A McKusick

4

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31 July 2017

Ralph S Lachman

5

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31 July 2017

Arnab B Chowdry

6

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31 July 2017

Monzer Jabak

7

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31 July 2017

Johan Zwaan

8

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31 July 2017

Alexander F Wilson

9

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31 July 2017

Ethylin Wang Jabs

10

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31 July 2017

3 April 2003

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31 July 2017

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31 July 2017

113

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31 July 2017

1

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31 July 2017

1-9

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https://scigraph.springernature.com/pub.10.1007/s00439-003-0932-6

31 July 2017

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cites work

A unique form of autosomal dominant cataract explained by gene conversion between beta-crystallin B2 and its pseudogene

1 reference

12 December 2020

The role of Pax-6 in eye and nasal development

1 reference

12 December 2020

Online Mendelian Inheritance in Man (OMIM) as a knowledgebase for human developmental disorders.

1 reference

12 December 2020

Faster linkage analysis computations for pedigrees with loops or unused alleles.

1 reference

12 December 2020

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects

1 reference

12 December 2020

Strategies for multilocus linkage analysis in humans

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12 December 2020

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

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12 December 2020

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

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12 December 2020

Automatic selection of loop breakers for genetic linkage analysis.

1 reference

12 December 2020

Delayed membranous cranial ossification in a mother and child

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12 December 2020

Expression of the novel transcription factor OASIS, which belongs to the CREB/ATF family, in mouse embryo with special reference to bone development.

1 reference

12 December 2020

Avoiding recomputation in linkage analysis.

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12 December 2020

Hereditary cranium bifidum and symmetric parietal foramina are the same entity

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12 December 2020

Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5

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12 December 2020

Faster sequential genetic linkage computations

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12 December 2020

Involvement of SOX proteins in lens-specific activation of crystallin genes

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12 December 2020

BMP7 acts in murine lens placode development

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12 December 2020

A specific targeting signal directs Runx2/Cbfa1 to subnuclear domains and contributes to transactivation of the osteocalcin gene

1 reference

12 December 2020

Expression of the osteoblast differentiation factor RUNX2 (Cbfa1/AML3/Pebp2alpha A) is inhibited by tumor necrosis factor-alpha

1 reference

12 December 2020

Toward understanding the pathogenesis of craniosynostosis through clinical and molecular correlates

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12 December 2020

Fgf receptor signaling plays a role in lens induction.

1 reference

12 December 2020

Mutation of PAX9 is associated with oligodontia

1 reference

12 December 2020

Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family.

1 reference

12 December 2020

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

1 reference

12 December 2020

Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

1 reference

12 December 2020

Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.

1 reference

12 December 2020

Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye

1 reference

12 December 2020

Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.

1 reference

12 December 2020

Isolation of differentially expressed genes from wild-type and Twist mutant mouse limb buds.

1 reference

12 December 2020

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

12 December 2020

Control and counter-control of TGF-beta activity through FAST and Runx (CBFa) transcriptional elements in osteoblasts

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12 December 2020

Physical interaction of the activator protein-1 factors c-Fos and c-Jun with Cbfa1 for collagenase-3 promoter activation

1 reference

12 December 2020

Easy calculations of lod scores and genetic risks on small computers

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12 December 2020

A "new" skeletal dysplasia in two unrelated boys.

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12 December 2020

Reaching a genetic and molecular understanding of skeletal development

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12 December 2020

Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome

1 reference

12 December 2020

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

1 reference

12 December 2020

Phenotypic findings due to trisomy 7p15.3-pter including the TWIST locus

1 reference

12 December 2020

Antagonistic interactions between FGF and BMP signaling pathways: a mechanism for positioning the sites of tooth formation

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12 December 2020

A new Pax gene, Pax-9, maps to mouse chromosome 12.

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12 December 2020

TWIST inactivation reduces CBFA1/RUNX2 expression and DNA binding to the osteocalcin promoter in osteoblasts

1 reference

12 December 2020

Oropharyngeal desmoid fibromatosis, congenital glaucoma and cataracts, and a calvarial defect: a new syndrome

1 reference

12 December 2020

Cloning and characterization of a novel WD-40 repeat protein that dramatically accelerates osteoblastic differentiation

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12 December 2020

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

1 reference

12 December 2020

Development and evolution of the eye: Fondation des Treilles, September, 2001.

1 reference

12 December 2020

10.1007/S00439-003-0932-6

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