Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects. (Q35079561)

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4 March 2020

title

Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects (English)

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4 March 2020

19

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4 March 2020

Emilia Cirillo

1

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4 March 2020

Giuliana Giardino

2

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4 March 2020

Chiara Azzari

5

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4 March 2020

Caterina Cancrini

16

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4 March 2020

Paolo Rossi

17

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4 March 2020

14

Gioacchino Scarano

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4 March 2020

13

Alessandro Plebani

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4 March 2020

author name string

Vera Gallo

3

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4 March 2020

Pamela Puliafito

4

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4 March 2020

Rosa Bacchetta

6

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4 March 2020

Fabio Cardinale

7

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4 March 2020

Maria Pia Cicalese

8

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4 March 2020

Rita Consolini

9

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4 March 2020

Silvana Martino

10

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4 March 2020

Baldassarre Martire

11

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4 March 2020

Cristina Molinatto

12

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4 March 2020

Annarosa Soresina

15

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4 March 2020

Maria Cristina Digilio

18

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4 March 2020

publication date

2 January 2014

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4 March 2020

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4 March 2020

volume

15

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4 March 2020

page(s)

1

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MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome

4 March 2020

cites work

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Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

8 July 2018

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Epigenetic mechanisms in cardiac development and disease

8 July 2018

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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

8 July 2018

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Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome

8 July 2018

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Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

8 July 2018

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Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

8 July 2018

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Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements

8 July 2018

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Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

8 July 2018

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Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population

8 July 2018

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Role of TBX1 in human del22q11.2 syndrome

8 July 2018

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Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies

8 July 2018

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DiGeorge syndrome: the use of model organisms to dissect complex genetics

8 July 2018

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Chromosomal microdeletions: dissecting del22q11 syndrome

8 July 2018

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Defective function of Fas in patients with type 1 diabetes associated with other autoimmune diseases

8 July 2018

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

8 July 2018

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Phenotype of adults with the 22q11 deletion syndrome: A review

8 July 2018

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The Philadelphia story: the 22q11.2 deletion: report on 250 patients

8 July 2018

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

8 July 2018

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The annual incidence of DiGeorge/velocardiofacial syndrome

8 July 2018

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Frequency of inherited deletions of 22q11.

8 July 2018

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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study

8 July 2018

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

8 July 2018

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Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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21 January 2018

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21 January 2018

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Functional attenuation of UFD1l, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos.

21 January 2018

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Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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22q11.2 deletion presenting with severe hypocalcaemia, seizure and basal ganglia calcification in an adult man.

21 January 2018

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Cut-off limits of the GH response to GHRH plus arginine test and IGF-I levels for the diagnosis of GH deficiency in late adolescents and young adults

21 January 2018

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21 January 2018

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4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome

21 January 2018

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Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

21 January 2018

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Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs

21 January 2018

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Comparative Evaluation of Therapy with L -Thyroxine versus No Treatment in Children with Idiopathic and Mild Subclinical Hypothyroidism

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A deletion in chromosome 22 can cause DiGeorge syndrome

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Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

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VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

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Familial deletions of chromosome 22q11

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Identifiers

DOI

10.1186/1471-2350-15-1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24383682%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

4 March 2020

1014969076

0 references

Fatcat ID

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Fatcat

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24 November 2022

mapped directly with Wikidata item

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4 March 2020

PubMed publication ID

24383682

1 reference

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