Literature DB >> 29061681

Clinical Reasoning: A common cause for Phelan-McDermid syndrome and neurofibromatosis type 2: One ring to bind them.

Ariel M Lyons-Warren1, Sau Wai Cheung1, J Lloyd Holder2.   

Abstract

Entities:  

Mesh：

Year:  2017        PMID： 29061681      PMCID： PMC5664307          DOI： 10.1212/WNL.0000000000004573

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  10 in total

1.  The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).

Authors:  K Phelan; H E McDermid
Journal:  Mol Syndromol       Date:  2011-11-22

2.  Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

Authors:  M Shevell; S Ashwal; D Donley; J Flint; M Gingold; D Hirtz; A Majnemer; M Noetzel; R D Sheth
Journal:  Neurology       Date:  2003-02-11       Impact factor: 9.910

Review 3.  Neurofibromatosis Type 2.

Authors:  Simone Ardern-Holmes; Gemma Fisher; Kathryn North
Journal:  J Child Neurol       Date:  2016-09-29       Impact factor: 1.987

Review 4.  Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis.

Authors:  Jesse Lee Kresak; Meggen Walsh
Journal:  J Pediatr Genet       Date:  2016-03-09

Review 5.  Update on the investigation of children with delayed development.

Authors:  Natalie Silove; Felicity Collins; Carolyn Ellaway
Journal:  J Paediatr Child Health       Date:  2013-04-19       Impact factor: 1.954

Review 6.  Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.

Authors:  T Tsilchorozidou; F H Menko; F Lalloo; A Kidd; R De Silva; H Thomas; P Smith; A Malcolmson; J Dore; K Madan; A Brown; J G Yovos; M Tsaligopoulos; N Vogiatzis; M E Baser; A J Wallace; D G R Evans
Journal:  J Med Genet       Date:  2004-07       Impact factor: 6.318

Review 7.  Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

Authors:  Roberta Santos Guilherme; Karina Cunha Soares; Milena Simioni; Tarsis Paiva Vieira; Vera Lúcia Gil-da-Silva-Lopes; Chong Ae Kim; Décio Brunoni; Nancy Bettina Spinner; Laura Kathleen Conlin; Denise Maria Christofolini; Leslie Domenici Kulikowski; Carlos Eduardo Steiner; Maria Isabel Melaragno
Journal:  Am J Med Genet A       Date:  2014-04-03       Impact factor: 2.802

Review 8.  Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.

Authors:  Alexander Kolevzon; Benjamin Angarita; Lauren Bush; A Ting Wang; Yitzchak Frank; Amy Yang; Robert Rapaport; Jeffrey Saland; Shubhika Srivastava; Cristina Farrell; Lisa J Edelmann; Joseph D Buxbaum
Journal:  J Neurodev Disord       Date:  2014-10-08       Impact factor: 4.025

9.  Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Authors:  Maria Clara Bonaglia; Roberto Giorda; Silvana Beri; Cristina De Agostini; Francesca Novara; Marco Fichera; Lucia Grillo; Ornella Galesi; Annalisa Vetro; Roberto Ciccone; Maria Teresa Bonati; Sabrina Giglio; Renzo Guerrini; Sara Osimani; Susan Marelli; Claudio Zucca; Rita Grasso; Renato Borgatti; Elisa Mani; Cristina Motta; Massimo Molteni; Corrado Romano; Donatella Greco; Santina Reitano; Anna Baroncini; Elisabetta Lapi; Antonella Cecconi; Giulia Arrigo; Maria Grazia Patricelli; Chiara Pantaleoni; Stefano D'Arrigo; Daria Riva; Francesca Sciacca; Bernardo Dalla Bernardina; Leonardo Zoccante; Francesca Darra; Cristiano Termine; Emanuela Maserati; Stefania Bigoni; Emanuela Priolo; Armand Bottani; Stefania Gimelli; Frederique Bena; Alfredo Brusco; Eleonora di Gregorio; Irene Bagnasco; Ursula Giussani; Lucio Nitsch; Pierluigi Politi; Maria Luisa Martinez-Frias; Maria Luisa Martínez-Fernández; Nieves Martínez Guardia; Anna Bremer; Britt-Marie Anderlid; Orsetta Zuffardi
Journal:  PLoS Genet       Date:  2011-07-14       Impact factor: 5.917

10.  Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

Authors:  Renée J Zwanenburg; Selma A J Ruiter; Edwin R van den Heuvel; Boudien C T Flapper; Conny M A Van Ravenswaaij-Arts
Journal:  J Neurodev Disord       Date:  2016-04-26       Impact factor: 4.025
  10 in total
  3 in total

1.  Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.

Authors:  Julián Nevado; Sixto García-Miñaúr; María Palomares-Bralo; Elena Vallespín; Encarna Guillén-Navarro; Jordi Rosell; Cristina Bel-Fenellós; María Ángeles Mori; Montserrat Milá; Miguel Del Campo; Pilar Barrúz; Fernando Santos-Simarro; Gabriela Obregón; Carmen Orellana; Harry Pachajoa; Jair Antonio Tenorio; Enrique Galán; Juan C Cigudosa; Angélica Moresco; César Saleme; Silvia Castillo; Elisabeth Gabau; Luis Pérez-Jurado; Ana Barcia; Maria Soledad Martín; Elena Mansilla; Isabel Vallcorba; Pedro García-Murillo; Franco Cammarata-Scalisi; Natálya Gonçalves Pereira; Raquel Blanco-Lago; Mercedes Serrano; Juan Dario Ortigoza-Escobar; Blanca Gener; Verónica Adriana Seidel; Pilar Tirado; Pablo Lapunzina
Journal:  Front Genet       Date:  2022-04-12       Impact factor: 4.772

2.  Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.

Authors:  Alexander Kolevzon; Elsa Delaby; Elizabeth Berry-Kravis; Joseph D Buxbaum; Catalina Betancur
Journal:  Mol Autism       Date:  2019-12-24       Impact factor: 7.509

Review 3.  Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management.

Authors:  Francisco Cammarata-Scalisi; Michele Callea; Diego Martinelli; Colin Eric Willoughby; Antonio Cárdenas Tadich; Maykol Araya Castillo; María Angelina Lacruz-Rengel; Marco Medina; Piercesare Grimaldi; Enrico Bertini; Julián Nevado
Journal:  Genes (Basel)       Date:  2022-03-12       Impact factor: 4.096
  3 in total

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