Inventaire - teman dan komunitas anda adalah perpustakaan terbaik

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

pengarang

Jolanta Wierzba

Maria Sąsiadek

Beata Lipska-Ziętkiewicz

1978 -

Janusz Limon

1946 -

Robert Śmigiel

Mariola Iliszko

Magdalena Koczkowska

diterbitkan dalam: Journal of Applied Genetics

tanggal publikasi: 2016-09-14

Cites articles 25

Date

Judul

Pengarang

2015-10-28

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

Jerome Toutain, Paul Kuentz, Francois Vialard, Francois Cartault
2015-08

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Jose Carlos Ferreira, Viola Alesi, Laetitia Gouas, Antonio Novelli, Philippe Vago, Francois Vialard
2015-02-01

Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation

Bernice E. Morrow, Jonathan Chung, Elaine Zackai, Donna M McDonald-McGinn, Elizabeth Goldmuntz
2014-06-01

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

Erik Boot, Stephan Eliez, Maria Niarchou, Linda E Campbell, Martin Debbané, Marianne Bernadette van den Bree, Kieran Murphy, Declan Murphy, Raquel E Gur, Abraham Weizman, Donna M McDonald-McGinn, Therese van Amelsvoort, Maude Schneider, Carrie E Bearden, Stephen R. Hooper, Wendy R Kates
2014-03-13

The impact of chromosomal microarray on clinical management: a retrospective analysis.
2014-08-14

Central 22q11.2 deletions

Dorit Lev
2013-06-01

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

Hanne Meijers-Heijboer, Anne Cambon-Thomsen, Bartha Knoppers, Pascal Borry, Heidi Carmen Howard, Hans Scheffer, Martina C. Cornel, Wybo Dondorp, Lisbeth Tranebjærg
2013-12-26

Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization.

Norman Ginsberg
2012-06-01

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.

Damien Sanlaville, Joris R Vermeesch
2012-02-08

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

Bernard Thienpont, Marc Gewillig, Léon-Charles Tranchevent, Karel Allegaert, Joris R Vermeesch, Yves Moreau
2012-08-01

Points to consider in the clinical application of genomic sequencing
2012-04-13

Regeneration of comparative genomic hybridization oligonucleotide microarrays with dimethylurea

Arkadiusz Piotrowski, Janusz Limon
2011-09-01

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Christa Lese Martin, Deanna M. Church, David H. Ledbetter
2011-08

Practical guidelines for managing patients with 22q11.2 deletion syndrome

Koen Devriendt, Kathleen E. Sullivan, Donna M McDonald-McGinn
2011-11-21

Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability
2010-12-06

Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

Aldona Siwińska, Ryszard Słomski, Anna Latos-Bieleńska, Tomasz Moszura, Maciej Krawczyński, Magdalena Badura-Stronka, Waldemar Bobkowski, Joanna Zeyland, Anna Materna-Kiryluk
2010-05-14

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

Evan E. Eichler, Christa Lese Martin, Jan M Friedman, Carla Rosenberg, Stephen W. Scherer, Ada Hamosh, Leslie G Biesecker, Deanna M. Church, Lars Feuk, Joris R Vermeesch, William A. Faucett, Robert M. Kuhn, David T. Miller, David H. Ledbetter
2010-02-03

Clinical utility gene card for: DiGeorge syndrome, velocardiofacial syndrome, Shprintzen syndrome, chromosome 22q11.2 deletion syndrome (22q11.2, TBX1).

Anita Rauch
2010-05

Molecular and clinical characterization of patients with overlapping 10p deletions

Anna Lindstrand, Irina Golovleva, Ann Nordgren, Maud Eriksson
2009

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

Xavier Estivill i Pallejà, Jordi Rosell
2008-05-01

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion

Luis Garcia Guereta, D. Heine-Suñer
2003-10-25

Role of TBX1 in human del22q11.2 syndrome

Naoyuki Kamatani, Shuichi Asakawa
1999-12-01

Towards earlier diagnosis of 22q11 deletions
1999-04-01

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585
1996-08

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

Matthew Kraman, Peter J Scambler, Thomas Meitinger, Judith A Goodship

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