Literature DB >> 35122187

Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.

Udayakumar Narasimhan1, Abhinayaa Janakiraman1, Dedeepya Puskur1, Fatima Shirly Anitha1, Solomon Franklin Durairaj Paul2, Teena Koshy3.   

Abstract

Entities:  

Year:  2022        PMID: 35122187     DOI: 10.1007/s10803-022-05458-6

Source DB:  PubMed          Journal:  J Autism Dev Disord        ISSN: 0162-3257


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  22 in total

Review 1.  Beyond Mendel: an evolving view of human genetic disease transmission.

Authors:  Jose L Badano; Nicholas Katsanis
Journal:  Nat Rev Genet       Date:  2002-10       Impact factor: 53.242

2.  Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins.

Authors:  Fernanda S Jehee; Valdirene T de Oliveira; Juliana Gurgel-Giannetti; Rafaella X Pietra; Fernando V M Rubatino; Natália V Carobin; Gabrielle S Vianna; Mariana L de Freitas; Karla S Fernandes; Beatriz S V Ribeiro; Hennie T Brüggenwirth; Roza Ali-Amin; Janson J White; Zeynep C Akdemir; Shalini N Jhangiani; Richard A Gibbs; James R Lupski; Monica C Varela; Célia Koiffmann; Carla Rosenberg; Cláudia M B Carvalho
Journal:  Am J Med Genet A       Date:  2017-06-20       Impact factor: 2.802

Review 3.  Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.

Authors:  A S Brooks; B A Oostra; R M W Hofstra
Journal:  Clin Genet       Date:  2005-01       Impact factor: 4.438

4.  Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system.

Authors:  A S Cristino; S M Williams; Z Hawi; J-Y An; M A Bellgrove; C E Schwartz; L da F Costa; C Claudianos
Journal:  Mol Psychiatry       Date:  2013-02-26       Impact factor: 15.992

Review 5.  Modifier genes of hereditary hearing loss.

Authors:  T Friedman; J Battey; B Kachar; S Riazuddin; K Noben-Trauth; A Griffith; E Wilcox
Journal:  Curr Opin Neurobiol       Date:  2000-08       Impact factor: 6.627

6.  Brief Report: The Prevalence of Neurofibromatosis Type 1 among Children with Autism Spectrum Disorder Identified by the Autism and Developmental Disabilities Monitoring Network.

Authors:  Deborah A Bilder; Amanda V Bakian; David A Stevenson; Paul S Carbone; Christopher Cunniff; Alyson B Goodman; William M McMahon; Nicole P Fisher; David Viskochil
Journal:  J Autism Dev Disord       Date:  2016-10

7.  Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.

Authors:  Rong Chen; Lisong Shi; Jörg Hakenberg; Brian Naughton; Pamela Sklar; Jianguo Zhang; Hanlin Zhou; Lifeng Tian; Om Prakash; Mathieu Lemire; Patrick Sleiman; Wei-Yi Cheng; Wanting Chen; Hardik Shah; Yulan Shen; Menachem Fromer; Larsson Omberg; Matthew A Deardorff; Elaine Zackai; Jason R Bobe; Elissa Levin; Thomas J Hudson; Leif Groop; Jun Wang; Hakon Hakonarson; Anne Wojcicki; George A Diaz; Lisa Edelmann; Eric E Schadt; Stephen H Friend
Journal:  Nat Biotechnol       Date:  2016-04-11       Impact factor: 54.908

8.  Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases.

Authors:  Anna Bauer-Mehren; Markus Bundschus; Michael Rautschka; Miguel A Mayer; Ferran Sanz; Laura I Furlong
Journal:  PLoS One       Date:  2011-06-14       Impact factor: 3.240

9.  ClinVar: public archive of interpretations of clinically relevant variants.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Jeffrey Hoover; Wonhee Jang; Kenneth Katz; Michael Ovetsky; George Riley; Amanjeev Sethi; Ray Tully; Ricardo Villamarin-Salomon; Wendy Rubinstein; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2015-11-17       Impact factor: 16.971

10.  Movement Disorders and Syndromic Autism: A Systematic Review.

Authors:  L Bell; A Wittkowski; D J Hare
Journal:  J Autism Dev Disord       Date:  2019-01
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