Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

C Gervasini; C Picinelli; J Azzollini; D Rusconi; M Masciadri; A Cereda; C Marzocchi; Giuseppe Zampino; A Selicorni; R Tenconi; Serena Russo; L Larizza; P. Finelli

doi:10.1186/1471-2350-14-41

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

C Gervasini
, C Picinelli
, J Azzollini
, D Rusconi
, M Masciadri
, A Cereda
, C Marzocchi
, Giuseppe Zampino
, A Selicorni
, R Tenconi
, Serena Russo
, L Larizza
, P. Finelli^*

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

18 Citazioni (Scopus)

Abstract

Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.

Lingua originale	Inglese
pagine (da-a)	41-41
Numero di pagine	1
Rivista	BMC Medical Genetics
Volume	14
Numero di pubblicazione	Aprile
DOI	https://doi.org/10.1186/1471-2350-14-41
Stato di pubblicazione	Pubblicato - 2013

All Science Journal Classification (ASJC) codes

Genetica
Genetica (clinica)

Keywords

Cell Cycle Proteins
Child
Chromosomal Proteins
Chromosomes
DNA Copy Number Variations
De Lange Syndrome
Female
Gene Deletion
Genetic
Genomic Instability
Human
Humans
Male
Non-Histone
Pair 1
Pair 17
Pair 19
Pair 4
Phenotype
Proteins
Translocation
Young Adult

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10.1186/1471-2350-14-41

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Gervasini, C., Picinelli, C., Azzollini, J., Rusconi, D., Masciadri, M., Cereda, A., Marzocchi, C., Zampino, G., Selicorni, A., Tenconi, R., Russo, S., Larizza, L., & Finelli, P. (2013). Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Medical Genetics, 14(Aprile), 41-41. https://doi.org/10.1186/1471-2350-14-41

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title = "Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome",

abstract = "Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50\% and 6\% of cases, respectively.",

keywords = "Cell Cycle Proteins, Child, Chromosomal Proteins, Chromosomes, DNA Copy Number Variations, De Lange Syndrome, Female, Gene Deletion, Genetic, Genomic Instability, Human, Humans, Male, Non-Histone, Pair 1, Pair 17, Pair 19, Pair 4, Phenotype, Proteins, Translocation, Young Adult, Cell Cycle Proteins, Child, Chromosomal Proteins, Chromosomes, DNA Copy Number Variations, De Lange Syndrome, Female, Gene Deletion, Genetic, Genomic Instability, Human, Humans, Male, Non-Histone, Pair 1, Pair 17, Pair 19, Pair 4, Phenotype, Proteins, Translocation, Young Adult",

author = "C Gervasini and C Picinelli and J Azzollini and D Rusconi and M Masciadri and A Cereda and C Marzocchi and Giuseppe Zampino and A Selicorni and R Tenconi and Serena Russo and L Larizza and P. Finelli",

year = "2013",

doi = "10.1186/1471-2350-14-41",

language = "English",

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Gervasini, C, Picinelli, C, Azzollini, J, Rusconi, D, Masciadri, M, Cereda, A, Marzocchi, C, Zampino, G, Selicorni, A, Tenconi, R, Russo, S, Larizza, L & Finelli, P 2013, 'Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome', BMC Medical Genetics, vol. 14, n. Aprile, pagg. 41-41. https://doi.org/10.1186/1471-2350-14-41

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T1 - Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

AU - Gervasini, C

AU - Picinelli, C

AU - Azzollini, J

AU - Rusconi, D

AU - Masciadri, M

AU - Cereda, A

AU - Marzocchi, C

AU - Zampino, Giuseppe

AU - Selicorni, A

AU - Tenconi, R

AU - Russo, Serena

AU - Larizza, L

AU - Finelli, P.

PY - 2013

Y1 - 2013

N2 - Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.

AB - Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NIPBL (cohesin regulator) and SMC1A (cohesin structural subunit) genes account for > 50% and 6% of cases, respectively.

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KW - Chromosomes

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KW - Gene Deletion

KW - Genetic

KW - Genomic Instability

KW - Human

KW - Humans

KW - Male

KW - Non-Histone

KW - Pair 1

KW - Pair 17

KW - Pair 19

KW - Pair 4

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KW - Proteins

KW - Translocation

KW - Young Adult

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JF - BMC Medical Genetics

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ER -

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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