(Q79608660)

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24 December 2019

case report

0 references

title

Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region (English)

1 reference

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24 December 2019

1 reference

Anne Ronan

1

1 reference

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24 December 2019

Kerry Fagan

2

1 reference

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24 December 2019

Louise Christie

3

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24 December 2019

Jeffrey Conroy

4

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24 December 2019

Norma J Nowak

5

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24 December 2019

Gillian Turner

6

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24 December 2019

publication date

19 January 2007

1 reference

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Journal of Medical Genetics

24 December 2019

published in

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24 December 2019

volume

44

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24 December 2019

issue

7

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24 December 2019

page(s)

448-451

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Fine-scale structural variation of the human genome

24 December 2019

cites work

1 reference

12 December 2020

Confirmation of Down syndrome critical region by FISH analysis in a patient with add(21) (p11)

1 reference

12 December 2020

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21.

1 reference

12 December 2020

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

1 reference

12 December 2020

Pregnancy outcome in fetuses with increased nuchal translucency and normal karyotype.

1 reference

12 December 2020

Increased nuchal translucency in fetuses with a normal karyotype

1 reference

12 December 2020

Pregnancy outcome of 30 fetuses with cystic hygroma diagnosed during the first 15 weeks of gestation.

1 reference

12 December 2020

Large-scale copy number polymorphism in the human genome

1 reference

12 December 2020

Detection of large-scale variation in the human genome

1 reference

12 December 2020

Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.

1 reference

12 December 2020

Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication.

1 reference

12 December 2020

1 reference

12 December 2020

Down syndrome due to partial trisomy 21q

1 reference

12 December 2020

Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21

1 reference

12 December 2020

Partial trisomy 21. Further evidence that trisomy of band 21q22 is essential for Down's phenotype

1 reference

12 December 2020

1 reference

12 December 2020

Moderate Down's syndrome in three siblings having partial trisomy 21q22.2?qter and therefore no SOD-1 excess

1 reference

12 December 2020

Atypical Down syndrome and partial trisomy 21

1 reference

12 December 2020

Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion

1 reference

12 December 2020

Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality

1 reference

12 December 2020

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome)

1 reference

12 December 2020

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

1 reference

12 December 2020

Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype

1 reference

12 December 2020

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

1 reference

12 December 2020

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

1 reference

12 December 2020

Down syndrome critical region around D21S55 on proximal 21q22.3

1 reference

12 December 2020

The natural history of euploid pregnancies with first-trimester cystic hygromas

1 reference

12 December 2020

Down syndrome phenotypes: the consequences of chromosomal imbalance

1 reference

12 December 2020

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

1 reference

12 December 2020

Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome.

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.047373

1 reference

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24 December 2019

1 reference

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24 December 2019

PubMed publication ID

17237124

1 reference