Literature DB >> 25537356

Clinical utility gene card for: Cornelia de Lange syndrome.

Feliciano J Ramos1,2, Beatriz Puisac2, Carolina Baquero-Montoya3, Ma Concepción Gil-Rodríguez2, Inés Bueno1, Matthew A Deardorff4, Raoul C Hennekam5, Frank J Kaiser6, Ian D Krantz7, Antonio Musio8, Angelo Selicorni9, David R FitzPatrick10, Juan Pié2.   

Abstract

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Year:  2014        PMID： 25537356      PMCID： PMC4592075          DOI： 10.1038/ejhg.2014.270

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  26 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.

Authors:  Guntram Borck; Mohamed Zarhrate; Céline Cluzeau; Elodie Bal; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux
Journal:  Hum Mutat       Date:  2006-08       Impact factor: 4.878

3.  Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

Authors:  Matthew A Deardorff; Maninder Kaur; Dinah Yaeger; Abhinav Rampuria; Sergey Korolev; Juan Pie; Concepcion Gil-Rodríguez; María Arnedo; Bart Loeys; Antonie D Kline; Meredith Wilson; Kaj Lillquist; Victoria Siu; Feliciano J Ramos; Antonio Musio; Laird S Jackson; Dale Dorsett; Ian D Krantz
Journal:  Am J Hum Genet       Date:  2007-01-17       Impact factor: 11.025

4.  Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics.

Authors:  Diana Braunholz; Carolin Obieglo; Ilaria Parenti; Jelena Pozojevic; Juliane Eckhold; Benedikt Reiz; Ingrid Braenne; Kerstin S Wendt; Erwan Watrin; Julia Vodopiutz; Harald Rieder; Gabriele Gillessen-Kaesbach; Frank J Kaiser
Journal:  Hum Mutat       Date:  2014-12-02       Impact factor: 4.878

5.  Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.

Authors:  Dau-Ming Niu; Jing-Ying Huang; Hsin-Yang Li; Kai-Ming Liu; Shih-Ting Wang; Yann-Jang Chen; Toru Udaka; Kosuke Izumi; Kenjiro Kosaki
Journal:  Prenat Diagn       Date:  2006-11       Impact factor: 3.050

6.  X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Authors:  Antonio Musio; Angelo Selicorni; Maria Luisa Focarelli; Cristina Gervasini; Donatella Milani; Silvia Russo; Paolo Vezzoni; Lidia Larizza
Journal:  Nat Genet       Date:  2006-04-09       Impact factor: 38.330

7.  NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Authors:  Lynette A Gillis; Jennifer McCallum; Maninder Kaur; Cheryl DeScipio; Dinah Yaeger; Allison Mariani; Antonie D Kline; Hui-hua Li; Marcella Devoto; Laird G Jackson; Ian D Krantz
Journal:  Am J Hum Genet       Date:  2004-08-18       Impact factor: 11.025

8.  Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

Authors:  Ian D Krantz; Jennifer McCallum; Cheryl DeScipio; Maninder Kaur; Lynette A Gillis; Dinah Yaeger; Lori Jukofsky; Nora Wasserman; Armand Bottani; Colleen A Morris; Malgorzata J M Nowaczyk; Helga Toriello; Michael J Bamshad; John C Carey; Eric Rappaport; Shimako Kawauchi; Arthur D Lander; Anne L Calof; Hui-Hua Li; Marcella Devoto; Laird G Jackson
Journal:  Nat Genet       Date:  2004-05-16       Impact factor: 38.330

Review 9.  Fryns syndrome: a review of the phenotype and diagnostic guidelines.

Authors:  Anne M Slavotinek
Journal:  Am J Med Genet A       Date:  2004-02-01       Impact factor: 2.802

10.  A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Authors:  Emma T Tonkin; Melanie Smith; Piet Eichhorn; Sandie Jones; Burhan Imamwerdi; Susan Lindsay; Mike Jackson; Tzu-Jou Wang; Maggie Ireland; John Burn; Ian D Krantz; Philippa Carr; Tom Strachan
Journal:  Hum Genet       Date:  2004-05-27       Impact factor: 4.132
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  15 in total

1.  Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma.

Authors:  Nishant Banait; Alan Fenton; Miranda Splitt
Journal:  BMJ Case Rep       Date:  2015-08-14

2.  Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.

Authors:  Maria M Pallotta; Maddalena Di Nardo; Patrizia Sarogni; Ian D Krantz; Antonio Musio
Journal:  Hum Mol Genet       Date:  2022-05-19       Impact factor: 5.121

3.  Genetics of Vesicoureteral Reflux.

Authors:  F Nino; M Ilari; C Noviello; L Santoro; I M Rätsch; A Martino; G Cobellis
Journal:  Curr Genomics       Date:  2016-02       Impact factor: 2.236

4.  Two-step ATP-driven opening of cohesin head.

Authors:  Íñigo Marcos-Alcalde; Jesús I Mendieta-Moreno; Beatriz Puisac; María Concepción Gil-Rodríguez; María Hernández-Marcos; Diego Soler-Polo; Feliciano J Ramos; José Ortega; Juan Pié; Jesús Mendieta; Paulino Gómez-Puertas
Journal:  Sci Rep       Date:  2017-06-12       Impact factor: 4.379

Review 5.  Genetics of vesicoureteral reflux and congenital anomalies of the kidney and urinary tract.

Authors:  Keum Hwa Lee; Heon Yung Gee; Jae Il Shin
Journal:  Investig Clin Urol       Date:  2017-06-07

6.  Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.

Authors:  Maura Masciadri; Anna Ficcadenti; Donatella Milani; Francesca Cogliati; Maria Teresa Divizia; Lidia Larizza; Silvia Russo
Journal:  Front Neurol       Date:  2018-11-27       Impact factor: 4.003

7.  Histone deacetylase 8 inhibition suppresses mantle cell lymphoma viability while preserving natural killer cell function.

Authors:  January M Watters; Gabriela Wright; Matthew A Smith; Bijal Shah; Kenneth L Wright
Journal:  Biochem Biophys Res Commun       Date:  2020-11-13       Impact factor: 3.575

Review 8.  Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

Authors:  Piero Pavone; Andrea D Praticò; Raffaele Falsaperla; Martino Ruggieri; Marcella Zollino; Giovanni Corsello; Giovanni Neri
Journal:  Ital J Pediatr       Date:  2015-08-05       Impact factor: 2.638

9.  Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.

Authors:  Alice Watkins; Stacey Bissell; Jo Moss; Chris Oliver; Jill Clayton-Smith; Lorraine Haye; Mary Heald; Alice Welham
Journal:  J Neurodev Disord       Date:  2019-10-05       Impact factor: 4.025

10.  Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Authors:  Ana Latorre-Pellicer; Marta Gil-Salvador; Ilaria Parenti; Cristina Lucia-Campos; Laura Trujillano; Iñigo Marcos-Alcalde; María Arnedo; Ángela Ascaso; Ariadna Ayerza-Casas; Rebeca Antoñanzas-Pérez; Cristina Gervasini; Maria Piccione; Milena Mariani; Axel Weber; Deniz Kanber; Alma Kuechler; Martin Munteanu; Katharina Khuller; Gloria Bueno-Lozano; Beatriz Puisac; Paulino Gómez-Puertas; Angelo Selicorni; Frank J Kaiser; Feliciano J Ramos; Juan Pié
Journal:  Sci Rep       Date:  2021-07-29       Impact factor: 4.379
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