Literature DB >> 27286846

Nicolaides-Baraitser syndrome: defining a phenotype.

Elena Pretegiani1,2, Francesca Mari3,4, Alessandra Renieri3,4, Silvana Penco5, Maria Teresa Dotti6.   

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Year:  2016        PMID： 27286846     DOI： 10.1007/s00415-016-8194-0

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  10 in total

1.  Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

Authors:  Jeroen K J Van Houdt; Beata Anna Nowakowska; Sérgio B Sousa; Barbera D C van Schaik; Eve Seuntjens; Nelson Avonce; Alejandro Sifrim; Omar A Abdul-Rahman; Marie-José H van den Boogaard; Armand Bottani; Marco Castori; Valérie Cormier-Daire; Matthew A Deardorff; Isabel Filges; Alan Fryer; Jean-Pierre Fryns; Simone Gana; Livia Garavelli; Gabriele Gillessen-Kaesbach; Bryan D Hall; Denise Horn; Danny Huylebroeck; Jakub Klapecki; Malgorzata Krajewska-Walasek; Alma Kuechler; Matthew A Lines; Saskia Maas; Kay D Macdermot; Shane McKee; Alex Magee; Stella A de Man; Yves Moreau; Fanny Morice-Picard; Ewa Obersztyn; Jacek Pilch; Elizabeth Rosser; Nora Shannon; Irene Stolte-Dijkstra; Patrick Van Dijck; Catheline Vilain; Annick Vogels; Emma Wakeling; Dagmar Wieczorek; Louise Wilson; Orsetta Zuffardi; Antoine H C van Kampen; Koenraad Devriendt; Raoul Hennekam; Joris Robert Vermeesch
Journal:  Nat Genet       Date:  2012-02-26       Impact factor: 38.330

2.  Nicolaides-Baraitser syndrome: Delineation of the phenotype.

Authors:  Sérgio B Sousa; Omar A Abdul-Rahman; Armand Bottani; Valérie Cormier-Daire; Alan Fryer; Gabriele Gillessen-Kaesbach; Denise Horn; Dragana Josifova; Alma Kuechler; Melissa Lees; Kay MacDermot; Alex Magee; Fanny Morice-Picard; Elizabeth Rosser; Ajoy Sarkar; Nora Shannon; Irene Stolte-Dijkstra; Alain Verloes; Emma Wakeling; Louise Wilson; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

3.  An unusual syndrome with mental retardation and sparse hair.

Authors:  P Nicolaides; M Baraitser
Journal:  Clin Dysmorphol       Date:  1993-07       Impact factor: 0.816

4.  A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

Authors:  David A McDonald; Robert Shenkar; Changbin Shi; Rebecca A Stockton; Amy L Akers; Melanie H Kucherlapati; Raju Kucherlapati; James Brainer; Mark H Ginsberg; Issam A Awad; Douglas A Marchuk
Journal:  Hum Mol Genet       Date:  2010-10-11       Impact factor: 6.150

Review 5.  Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.

Authors:  Carla Musso; Elaine Cochran; Stephanie Ann Moran; Monica C Skarulis; Elif Arioglu Oral; Simeon Taylor; Phillip Gorden
Journal:  Medicine (Baltimore)       Date:  2004-07       Impact factor: 1.889

Review 6.  Phenotype and genotype in Nicolaides-Baraitser syndrome.

Authors:  Sérgio B Sousa; Raoul C Hennekam
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-08-28       Impact factor: 3.908

Review 7.  SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability.

Authors:  Gijs W E Santen; Marjolein Kriek; Haico van Attikum
Journal:  Epigenetics       Date:  2012-09-25       Impact factor: 4.528

Review 8.  Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders.

Authors:  Alberto J López; Marcelo A Wood
Journal:  Front Behav Neurosci       Date:  2015-04-23       Impact factor: 3.558

9.  A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells.

Authors:  Axel Pagenstecher; Sonja Stahl; Ulrich Sure; Ute Felbor
Journal:  Hum Mol Genet       Date:  2008-12-16       Impact factor: 6.150

10.  Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability.

Authors:  Francesca Mari; Annabella Marozza; Maria Antonietta Mencarelli; Caterina Lo Rizzo; Chiara Fallerini; Laura Dosa; Chiara Di Marco; Giulia Carignani; Margherita Baldassarri; Paola Cianci; Rossella Vivarelli; Marina Vascotto; Salvatore Grosso; Pietro Rubegni; Carla Caffarelli; Elena Pretegiani; Michele Fimiani; Livia Garavelli; Francesca Cristofoli; Joris R Vermeesch; Ranuccio Nuti; Maria Teresa Dotti; Paolo Balestri; Joussef Hayek; Angelo Selicorni; Alessandra Renieri
Journal:  Brain Dev       Date:  2014-09-22       Impact factor: 1.961
  10 in total
  3 in total

1.  Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Authors:  Keren Machol; Justine Rousseau; Sophie Ehresmann; Thomas Garcia; Thi Tuyet Mai Nguyen; Rebecca C Spillmann; Jennifer A Sullivan; Vandana Shashi; Yong-Hui Jiang; Nicholas Stong; Elise Fiala; Marcia Willing; Rolph Pfundt; Tjitske Kleefstra; Megan T Cho; Heather McLaughlin; Monica Rosello Piera; Carmen Orellana; Francisco Martínez; Alfonso Caro-Llopis; Sandra Monfort; Tony Roscioli; Cheng Yee Nixon; Michael F Buckley; Anne Turner; Wendy D Jones; Peter M van Hasselt; Floris C Hofstede; Koen L I van Gassen; Alice S Brooks; Marjon A van Slegtenhorst; Katherine Lachlan; Jessica Sebastian; Suneeta Madan-Khetarpal; Desai Sonal; Naidu Sakkubai; Julien Thevenon; Laurence Faivre; Alice Maurel; Slavé Petrovski; Ian D Krantz; Jennifer M Tarpinian; Jill A Rosenfeld; Brendan H Lee; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2018-12-20       Impact factor: 11.025

2.  Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Authors:  Scott Bell; Justine Rousseau; Huashan Peng; Zahia Aouabed; Pierre Priam; Jean-Francois Theroux; Malvin Jefri; Arnaud Tanti; Hanrong Wu; Ilaria Kolobova; Heika Silviera; Karla Manzano-Vargas; Sophie Ehresmann; Fadi F Hamdan; Nuwan Hettige; Xin Zhang; Lilit Antonyan; Christina Nassif; Lina Ghaloul-Gonzalez; Jessica Sebastian; Jerry Vockley; Amber G Begtrup; Ingrid M Wentzensen; Amy Crunk; Robert D Nicholls; Kristin C Herman; Joshua L Deignan; Walla Al-Hertani; Stephanie Efthymiou; Vincenzo Salpietro; Noriko Miyake; Yoshio Makita; Naomichi Matsumoto; Rune Østern; Gunnar Houge; Maria Hafström; Emily Fassi; Henry Houlden; Jolien S Klein Wassink-Ruiter; Dominic Nelson; Amy Goldstein; Tabib Dabir; Julien van Gils; Thomas Bourgeron; Richard Delorme; Gregory M Cooper; Jose E Martinez; Candice R Finnila; Lionel Carmant; Anne Lortie; Renske Oegema; Koen van Gassen; Sarju G Mehta; Dagmar Huhle; Rami Abou Jamra; Sonja Martin; Han G Brunner; Dick Lindhout; Margaret Au; John M Graham; Christine Coubes; Gustavo Turecki; Simon Gravel; Naguib Mechawar; Elsa Rossignol; Jacques L Michaud; Julie Lessard; Carl Ernst; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2019-04-25       Impact factor: 11.025

3.  Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4.

Authors:  Fangjian Gao; Nicholas J Elliott; Josephine Ho; Alexzander Sharp; Maxim N Shokhirev; Diana C Hargreaves
Journal:  Mol Cell       Date:  2019-07-30       Impact factor: 17.970
  3 in total

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