Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 (Q24323194)

pattern specification process

GOA release 2020-03-11

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GOA release 2020-03-11

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B Franco

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Manuela Volta

object named as

M Volta

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Maximilian Muenke

object named as

M Muenke

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John Marius Opitz

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object named as

J M Opitz

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author name string

N A Quaderi

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S Schweiger

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K Gaudenz

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E I Rugarli

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W Berger

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G J Feldman

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G Andolfi

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S Gilgenkrantz

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R W Marion

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R C Hennekam

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H H Ropers

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A Ballabio

https://scigraph.springernature.com/pub.10.1038/ng1197-285

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language of work or name

English

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publication date

November 1997

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published in

Nature Genetics

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volume

17

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issue

3

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page(s)

285-91

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exact match

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cites work

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

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Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

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Finely tuned regulation of cytoplasmic retention of Xenopus nuclear factor 7 by phosphorylation of individual threonine residues

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Developmentally regulated expression of a human "finger"-containing gene encoded by the 5' half of the ret transforming gene

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GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

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The world according to hedgehog

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Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

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Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

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G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography

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7 January 2021

The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes.

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7 January 2021

Phenotypic overlap of the BBB and G syndromes

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7 January 2021

Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development

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7 January 2021

CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients

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7 January 2021

Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies.

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7 January 2021

Opitz oculo-genital-laryngeal syndrome (Opitz BBB/G compound syndrome)

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7 January 2021

The telecanthus-hypospadias syndrome.

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7 January 2021

BBBG syndrome or Opitz syndrome: new family

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Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region

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7 January 2021

Opitz GBBB syndrome: chromosomal evidence of an X-linked form.

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An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3–Xp21.3

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The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

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A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22.

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Compilation and analysis of sequences upstream from the translational start site in eukaryotic mRNAs

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De novo X;Y translocation associated with imperforate anus and retinal pigmentary abnormalities.

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Characterisation of a novel cysteine/histidine-rich metal binding domain from Xenopus nuclear factor XNF7

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A review of the molecular and cellular biology of butyrophilin, the major protein of bovine milk fat globule membrane

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Genomic binding-site cloning reveals an estrogen-responsive gene that encodes a RING finger protein

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7 January 2021

Molecular definition and sequence motifs of the 52-kD component of human SS-A/Ro autoantigen

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7 January 2021

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

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7 January 2021

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

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Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?

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