Literature DB >> 9375932

Familial deletions of chromosome 22q11.

M C Digilio, B Marino, A Giannotti, B Dallapiccola.   

Abstract

Mesh:

Year:  1997        PMID: 9375932

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


× No keyword cloud information.
  9 in total

1.  Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.

Authors:  B W M van Bon; H C Mefford; B Menten; D A Koolen; A J Sharp; W M Nillesen; J W Innis; T J L de Ravel; C L Mercer; M Fichera; H Stewart; L E Connell; K Ounap; K Lachlan; B Castle; N Van der Aa; C van Ravenswaaij; M A Nobrega; C Serra-Juhé; I Simonic; N de Leeuw; R Pfundt; E M Bongers; C Baker; P Finnemore; S Huang; V K Maloney; J A Crolla; M van Kalmthout; M Elia; G Vandeweyer; J P Fryns; S Janssens; N Foulds; S Reitano; K Smith; S Parkel; B Loeys; C G Woods; A Oostra; F Speleman; A C Pereira; A Kurg; L Willatt; S J L Knight; J R Vermeesch; C Romano; J C Barber; G Mortier; L A Pérez-Jurado; F Kooy; H G Brunner; E E Eichler; T Kleefstra; B B A de Vries
Journal:  J Med Genet       Date:  2009-04-15       Impact factor: 6.318

2.  The phenotype of recurrent 10q22q23 deletions and duplications.

Authors:  Bregje W M van Bon; Jorune Balciuniene; Gary Fruhman; Sandesh Chakravarthy Sreenath Nagamani; Diane L Broome; Elizabeth Cameron; Danielle Martinet; Eliane Roulet; Sebastien Jacquemont; Jacques S Beckmann; Mira Irons; Lorraine Potocki; Brendan Lee; Sau Wai Cheung; Ankita Patel; Melissa Bellini; Angelo Selicorni; Roberto Ciccone; Margherita Silengo; Annalisa Vetro; Nine V Knoers; Nicole de Leeuw; Rolph Pfundt; Barry Wolf; Petr Jira; Swaroop Aradhya; Pawel Stankiewicz; Han G Brunner; Orsetta Zuffardi; Scott B Selleck; James R Lupski; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2011-01-19       Impact factor: 4.246

Review 3.  Phenotype of adults with the 22q11 deletion syndrome: A review.

Authors:  E Cohen; E W Chow; R Weksberg; A S Bassett
Journal:  Am J Med Genet       Date:  1999-10-08

4.  Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome.

Authors:  Avishai A Alkalay; Tingwei Guo; Cristina Montagna; M Cristina Digilio; Bruno Dallapiccola; Bruno Marino; Bernice Morrow
Journal:  Am J Med Genet A       Date:  2011-02-18       Impact factor: 2.802

Review 5.  Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

Authors:  Blaine Crowley; Melanie Ruffner; Donna M McDonald McGinn; Kathleen E Sullivan
Journal:  Am J Med Genet A       Date:  2018-01-17       Impact factor: 2.802

Review 6.  From murine to human nude/SCID: the thymus, T-cell development and the missing link.

Authors:  Rosa Romano; Loredana Palamaro; Anna Fusco; Leucio Iannace; Stefano Maio; Ilaria Vigliano; Giuliana Giardino; Claudio Pignata
Journal:  Clin Dev Immunol       Date:  2012-03-05

7.  Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.

Authors:  Emilia Cirillo; Giuliana Giardino; Vera Gallo; Pamela Puliafito; Chiara Azzari; Rosa Bacchetta; Fabio Cardinale; Maria Pia Cicalese; Rita Consolini; Silvana Martino; Baldassarre Martire; Cristina Molinatto; Alessandro Plebani; Gioacchino Scarano; Annarosa Soresina; Caterina Cancrini; Paolo Rossi; Maria Cristina Digilio; Claudio Pignata
Journal:  BMC Med Genet       Date:  2014-01-02       Impact factor: 2.103

8.  Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing.

Authors:  J Helgeson; J Wardrop; T Boomer; E Almasri; W B Paxton; J S Saldivar; N Dharajiya; T J Monroe; D H Farkas; D S Grosu; R M McCullough
Journal:  Prenat Diagn       Date:  2015-07-27       Impact factor: 3.050

9.  Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.

Authors:  Tracy Tucker; Sylvie Giroux; Valérie Clément; Sylvie Langlois; Jan M Friedman; François Rousseau
Journal:  Mol Genet Genomic Med       Date:  2013-05-21       Impact factor: 2.183

  9 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.