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内部出版物
Wiley电子期刊(5)
SpringerLink电子期刊(17)
Elsevier电子期刊(3)
ACS电子期刊(1)
在“
SpringerLink电子期刊
”中,
命中:
17
条,耗时:0.0179964 秒
在所有数据库中总计命中:
26
条
1.
Rubinstein Taybi Syndrome in an Indian Child due to
EP300
Gene Mutation: Correspondence
作者:
Gloria Negri
;
Lidia Larizza
;
Cristina
Gervasini
刊名:The Indian Journal of Pediatrics
出版年:2017
2.
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management
作者:
Donatella Milani (1)
Francesca Maria Paola Manzoni (1)
Lidia Pezzani (1)
Paola Ajmone (2)
Cristina
Gervasini
(3)
Francesca Menni (1)
Susanna Esposito (1)
1. Pediatric Highly Intensive Care Unit
;
Department of Pathophysiology and Transplantation
;
Universit脿 degli Studi di Milano
;
Fondazione IRCCS Ca鈥?Granda Ospedale Maggiore Policlinico
;
Via Commenda 9
;
20122
;
Milano
;
Italy
2. UO Neuropsichiatria dell鈥橧nfanzia e dell鈥橝dolescenza
;
Fondazione IRCCS Ca鈥?Granda Ospedale Maggiore Policlinico
;
Milano
;
Italy
3. Department of Health Science
;
Medical Genetics
;
Universit脿 degli Studi di Milano
;
Milano
;
Italy
关键词:
CREBBP
;
Intellectual disability
;
Plurimalformative syndrome
;
Rubinstein syndrome
;
Rubinstein
;
Taybi syndrome
刊名:Italian Journal of Pediatrics
出版年:2015
3.
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
作者:
Cristina
Gervasini
(1)
Chiara Picinelli (2)
Jacopo Azzollini (1)
Daniela Rusconi (2) (6)
Maura Masciadri (2)
Anna Cereda (3)
Cinzia Marzocchi (4)
Giuseppe Zampino (5)
Angelo Selicorni (3)
Romano Tenconi (4)
Silvia Russo (2)
Lidia Larizza (1) (2)
Palma Finelli (2) (6) (7)
刊名:BMC Medical Genetics
出版年:2013
4.
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
作者:
Elisa A Colombo (1)
J Fernando Bazan (2)
Gloria Negri (1) (3)
Cristina
Gervasini
(1)
Nursel H Elcioglu (4)
Deniz Yucelten (5)
Ilknur Altunay (6)
Umram Cetincelik (7)
Anna Teti (8)
Andrea Del Fattore (9)
Matteo Luciani (10)
Spencer K Sullivan (11)
Albert C Yan (11)
Ludovica Volpi (12)
Lidia Larizza (1)
关键词:
Poikiloderma with Neutropenia
;
Dyskeratosis Congenita
;
Rothmund
;
Thomson
;
C16orf57
;
Founder effect
;
Bioinformatic prediction of C16orf57 protein
;
2H phosphoesterase superfamily
;
RNA processing
;
Myelodysplasia
刊名:Orphanet Journal of Rare Diseases
出版年:2012
5.
Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome
作者:
Paola Castronovo
;
Cristina
Gervasini
;
Anna Cereda
;
Maura Masciadri
;
Donatella Milani
;
Silvia Russo
;
Angelo Selicorni and Lidia Larizza
关键词:
Cornelia de Lange syndrome
;
premature chromatid separation
;
cohesin complex
;
diagnostic flowchart
刊名:Chromosome Research
出版年:2009
6.
Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports
作者:
Laura Bernardini (1)
Stefania Gimelli (2)
Cristina
Gervasini
(3)
Massimo Carella (1)
Anwar Baban (4) (5)
Giada Frontino (6)
Giancarlo Barbano (7)
Maria Teresa Divizia (4)
Luigi Fedele (6)
Antonio Novelli (1)
Frédérique Béna (2)
Faustina Lalatta (8)
Monica Miozzo (3)
Bruno Dallapiccola (1)
刊名:Orphanet Journal of Rare Diseases
出版年:2009
7.
Functional analysis of splicing mutations in exon 7 of NF1 gene
作者:
Irene Bottillo (1) (2)
Alessandro De Luca (1) (2)
Annalisa Schirinzi (1) (2)
Valentina Guida (1)
Isabella Torrente (1)
Stefano Calvieri (3)
Cristina
Gervasini
(4)
Lidia Larizza (4)
Antonio Pizzuti (1) (2)
Bruno Dallapiccola (1) (2)
刊名:BMC Medical Genetics
出版年:2007
8.
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients
作者:
Angela Bentivegna (1)
Donatella Milani (2)
Cristina
Gervasini
(1)
Paola Castronovo (1)
Federica Mottadelli (1)
Stefano Manzini (3)
Patrizia Colapietro (3)
Lucio Giordano (4)
Francesca Atzeri (2)
Maria T Divizia (5)
L Giovannucci Maria Uzielli (6)
Giovanni Neri (7)
Maria F Bedeschi (8)
Francesca Faravelli (9)
Angelo Selicorni (2)
Lidia Larizza (1)
刊名:BMC Medical Genetics
出版年:2006
9.
NF1 exon?7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis?1 patient
作者:
Patrizia Colapietro
;
Cristina
Gervasini
;
Federica Natacci
;
Livia Rossi
;
Paola Riva and Lidia Larizza
刊名:Human Genetics
出版年:2003
10.
Evidence for non-homologous end joining and non-allelic homologous recombination in atypical
NF1
microdeletions
作者:
Marco Venturin
;
Cristina
Gervasini
;
Francesca Orzan
;
Angela Bentivegna
;
Lucia Corrado
;
Patrizia Colapietro
;
Alessandra Friso
;
Romano Tenconi
;
Meena Upadhyaya and Lidia Larizza
;
et al.
刊名:Human Genetics
出版年:2004
1
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