Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits-Reference-Cited by-同舟云学术

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Characterisation of complex chromosome 18p rearrangements in two syndromic patients with immunological deficits

Published:2010-07 Issue:4 Volume:53 Page:186-191
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Recalcati Maria Paola,Valtorta Emanuele,Romitti Lorenza,Giardino Daniela,Manfredini Emanuela,Vaccari Roberto,Larizza Lidia,Finelli Palma

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. A splice site mutation confirms the role of LPIN2 in Majeed syndrome;Al-Mosawi;Arthritis Rheum.,2007

2. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletions;Ballif;Hum. Mol. Genet.,2003

3. Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation;Brenk;Eur. J. Hum. Genet.,2007

4. Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1);Czakó;Am. J. Med. Genet. A,2002

5. Follow-up of adult males with chromosome 18p deletion;De Ravel;Eur. J. Med. Genet.,2005

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1. Prenatal diagnosis of a de novo partial trisomy 6q and partial monosomy 18p associated with cephalocele: A case report;Balkan Journal of Medical Genetics;2020-06-01

2. Immune status of children with complications of BCG/BCG-M vaccination;Tuberculosis and Lung Diseases;2020-02-12

3. Genetic syndromes with evidence of immune deficiency;Stiehm's Immune Deficiencies;2020

4. Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman;Molecular Genetics & Genomic Medicine;2019-07-17

5. Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18;F1000Research;2018-02-28

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