(Q55738708)

9

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Alessandra Renieri

object named as

Alessandra Renieri

10

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author name string

Alma Kuechler

1

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Karen Buysse

2

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Jill Clayton-Smith

3

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Cédric Le Caignec

4

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Albert David

5

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Hartmut Engels

6

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Jürgen Kohlhase

7

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Dagmar Wieczorek

American Journal of Medical Genetics

11

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language of work or name

English

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publication date

7 July 2011

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published in

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volume

155

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issue

8

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page(s)

1857-1864

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cites work

Fog2 is required for normal diaphragm and lung development in mice and humans

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Interstitial deletion of 8q21-->22 associated with minor anomalies, congenital heart defect, and Dandy-Walker variant

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Interstitial deletion of the long arm of chromosome 8. Karyotype: 46,XY,del(8)(q21)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Genetic factors in congenital diaphragmatic hernia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Cohen syndrome diagnosis using whole genome arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

New modulatory alpha subunits for mammalian Shab K+ channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Diaphragmatic herniae and translocations involving 8q22 in two patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34072