(Q24540115)

English

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

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scholarly article

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A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects (English)

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1 reference

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author name string

S C Saitta

1

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J M McGrath

2

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H Mensch

3

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T H Shaikh

4

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E H Zackai

5

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B S Emanuel

6

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language of work or name

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publication date

August 1999

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American Journal of Human Genetics

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65

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2

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562-6

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Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype

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https://api.crossref.org/works/10.1086%2F302514

7 January 2021

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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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https://api.crossref.org/works/10.1086%2F302514

7 January 2021

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Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region

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https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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Frequency of 22q11 deletions in patients with conotruncal defects

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https://api.crossref.org/works/10.1086%2F302514

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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A novel 22q11.2 microdeletion in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

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Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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The organization of the human immunoglobulin lambda gene locus

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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One-megabase sequence analysis of the human immunoglobulin lambda gene locus

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

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A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects

1 reference

https://api.crossref.org/works/10.1086%2F302514

7 January 2021

based on heuristic

inferred from DOI database lookup

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