Literature DB >> 8287185

An unusual syndrome with mental retardation and sparse hair.

P Nicolaides1, M Baraitser.   

Abstract

We report a 16-year-old female patient with an undiagnosed syndrome, of mental retardation, sparse hair, a prominent lower lip, brachydactyly with cone-shaped epiphyses.

Entities:  

Mesh：

Year:  1993        PMID： 8287185

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  21 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.  Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Authors:  Nuria C Bramswig; Hermann-Josef Lüdecke; Yasemin Alanay; Beate Albrecht; Alexander Barthelmie; Koray Boduroglu; Diana Braunholz; Almuth Caliebe; Krystyna H Chrzanowska; Johanna Christina Czeschik; Sabine Endele; Elisabeth Graf; Encarna Guillén-Navarro; Pelin Özlem Simsek Kiper; Vanesa López-González; Ilaria Parenti; Jelena Pozojevic; Gulen Eda Utine; Thomas Wieland; Frank J Kaiser; Bernd Wollnik; Tim M Strom; Dagmar Wieczorek
Journal:  Hum Genet       Date:  2015-02-28       Impact factor: 4.132

3.  Nicolaides-Baraitser syndrome: defining a phenotype.

Authors:  Elena Pretegiani; Francesca Mari; Alessandra Renieri; Silvana Penco; Maria Teresa Dotti
Journal:  J Neurol       Date:  2016-06-10       Impact factor: 4.849

4.  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

Review 5.  COMPASS and SWI/SNF complexes in development and disease.

Authors:  Bercin K Cenik; Ali Shilatifard
Journal:  Nat Rev Genet       Date:  2020-09-21       Impact factor: 53.242

6.  In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.

Authors:  D Wolff; S Endele; S Azzarello-Burri; J Hoyer; M Zweier; I Schanze; B Schmitt; A Rauch; A Reis; C Zweier
Journal:  Mol Syndromol       Date:  2012-03-16

7.  Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.

Authors:  Ronit Marom; Mahim Jain; Lindsay C Burrage; I-Wen Song; Brett H Graham; Chester W Brown; Servi J C Stevens; Alexander P A Stegmann; Andrew T Gunter; Julie D Kaplan; Ralitza H Gavrilova; Marwan Shinawi; Jill A Rosenfeld; Yangjin Bae; Alyssa A Tran; Yuqing Chen; James T Lu; Richard A Gibbs; Christine Eng; Yaping Yang; Justine Rousseau; Bert B A de Vries; Philippe M Campeau; Brendan Lee
Journal:  Hum Mutat       Date:  2017-07-10       Impact factor: 4.878

Review 8.  Neuron-specific chromatin remodeling: a missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders.

Authors:  Annie Vogel-Ciernia; Marcelo A Wood
Journal:  Neuropharmacology       Date:  2013-10-15       Impact factor: 5.250

9.  The role of BAF (mSWI/SNF) complexes in mammalian neural development.

Authors:  Esther Y Son; Gerald R Crabtree
Journal:  Am J Med Genet C Semin Med Genet       Date:  2014-09-05       Impact factor: 3.908

Review 10.  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
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