(Q24323194)

pattern specification process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

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4

B Franco

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Manuela Volta

object named as

M Volta

8

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Maximilian Muenke

object named as

M Muenke

14

0 references

John Marius Opitz

13

object named as

J M Opitz

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author name string

N A Quaderi

1

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S Schweiger

2

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K Gaudenz

3

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E I Rugarli

5

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W Berger

6

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G J Feldman

7

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G Andolfi

9

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S Gilgenkrantz

10

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R W Marion

11

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R C Hennekam

12

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H H Ropers

15

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A Ballabio

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

16

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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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page(s)

285-91

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issue

3

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exact match

0 references

cites work

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

1 reference

The PML-RARα fusion mRNA generated by the t(15;17) translocation in acute promyelocytic leukemia encodes a functionally altered RAR

20 April 2017

1 reference

A Gene Map of the Human Genome

20 April 2017

1 reference

The RING finger domain: a recent example of a sequence-structure family

20 April 2017

1 reference

Carboxy-terminal cytoplasmic domain of mouse butyrophilin specifically associates with a 150-kDa protein of mammary epithelial cells and milk fat globule membrane

20 April 2017

1 reference

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

20 April 2017

1 reference

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

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

G syndrome: a review of the literature and a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

G syndrome and its otolaryngologic manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

Cytoplasmic retention of Xenopus nuclear factor 7 before the mid blastula transition uses a unique anchoring mechanism involving a retention domain and several phosphorylation sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

The world according to hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

Phenotypic overlap of the BBB and G syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

The telecanthus-hypospadias syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

BBBG syndrome or Opitz syndrome: new family

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

In vivo and in vitro characterization of the B1 and B2 zinc-binding domains from the acute promyelocytic leukemia protooncoprotein PML

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

The cloning and characterization of a maternally expressed novel zinc finger nuclear phosphoprotein (xnf7) in Xenopus laevis.

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

rpt-1, an intracellular protein from helper/inducer T cells that regulates gene expression of interleukin 2 receptor and human immunodeficiency virus type 1

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

Predicting coiled coils from protein sequences

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

Sonic hedgehog mediates the polarizing activity of the ZPA

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

A high resolution deletion map of human chromosome Xp22.

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021

Genome maps 7. The human transcript map. Wall chart

1 reference

https://api.crossref.org/works/10.1038%2FNG1197-285

7 January 2021