Pediatrics (methods) < Pedigree < Pedigree structure

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List of bibliographic references indexed by Pedigree

Number of relevant bibliographic references: 196.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000354 (2015)	Janel O. Johnson [Royaume-Uni] ; Giovanni Stevanin ; Joyce Van De Leemput ; Dena G. Hernandez ; Sampath Arepalli ; Sylvie Forlani ; Reza Zonozi ; J Raphael Gibbs ; Alexis Brice ; Alexandra Durr ; Andrew B. Singleton	A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome.
000785 (2013)	Jeremy R B. Newman [Australie] ; Alexander C. Lehn ; Richard S. Boyle ; Peter A. Silburn ; George D. Mellick	Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.
000881 (2013)	Gavin Charlesworth [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni]	No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia
000882 (2013)	Lingyan Ma [République populaire de Chine] ; Rongrong Chen ; Lin Wang ; Yingmai Yang ; Xinhua Wan	No mutations in CIZ1 in twelve adult-onset primary cervical dystonia families.
000910 (2013)	Eva C. Schulte [Allemagne] ; Malte C. Claussen ; Angela Jochim ; Tobias Haack ; Monika Hartig ; Maja Hempel ; Holger Prokisch ; Ursula Haun-Jünger ; Juliane Winkelmann ; Bernhard Hemmer ; Annette Förschler ; Rüdiger Ilg	Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.
000B09 (2013)	Silke Appel-Cresswell [Canada] ; Carles Vilarino-Guell ; Mary Encarnacion ; Holly Sherman ; Irene Yu ; Brinda Shah ; David Weir ; Christina Thompson ; Chelsea Szu-Tu ; Joanne Trinh ; Jan O. Aasly ; Alex Rajput ; Ali H. Rajput ; A. Jon Stoessl ; Matthew J. Farrer	Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
000B11 (2013)	Antonio E. Elia [Italie] ; Simona Petrucci ; Alfonso Fasano ; Marco Guidi ; Stefano Valbonesi ; Laura Bernardini ; Federica Consoli ; Alessandro Ferraris ; Alberto Albanese ; Enza Maria Valente	Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees.
000B28 (2013)	Yuichi Higashiyama ; Hiroshi Doi ; Masatoshi Wakabayashi ; Yoshinori Tsurusaki ; Noriko Miyake ; Hirotomo Saitsu ; Chihiro Ohba ; Ryoko Fukai ; Satoko Miyatake ; Hideto Joki ; Shigeru Koyano ; Yume Suzuki ; Fumiaki Tanaka ; Yoshiyuki Kuroiwa ; Naomichi Matsumoto	A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
000B76 (2012)	Ainhi D. Ha [Australie] ; Kaitlyn L. Parratt ; Nanna D. Rendtorff ; Marianne Lodahl ; Karl Ng ; Dominic B. Rowe ; Carolyn M. Sue ; Michael W. Hayes ; Lisbeth Tranebjaerg ; Victor S C. Fung	The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
000D65 (2012)	Jorge Luis Guerrero Camacho [Mexique] ; Nancy Monroy Jaramillo ; Petra Yescas G Mez ; Mayela Rodríguez Violante ; Catherine Boll Woehrlen ; Ma Elisa Alonso Vilatela ; Marisol L Pez L Pez	High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.
000E27 (2012)	Pia Winter [Allemagne] ; Christoph Kamm ; Saskia Biskup ; Angelika Köhler ; Barbara Leube ; Georg Auburger ; Thomas Gasser ; Rainer Benecke ; Ulrich Müller	DYT7 gene locus for cervical dystonia on chromosome 18p is questionable.
000E63 (2012)	Sean O Owd [Irlande (pays)] ; Denis Curtin [Irlande (pays)] ; Adrian J. Waite [Royaume-Uni] ; Kinley Roberts [Irlande (pays)] ; Niall Pender [Irlande (pays)] ; Valerie Reid [Irlande (pays)] ; Martin O Onnell [Irlande (pays)] ; Nigel M. Williams [Royaume-Uni] ; Huw R. Morris [Royaume-Uni] ; Bryan J. Traynor [États-Unis] ; Timothy Lynch [Irlande (pays)]	C9ORF72 Expansion in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Also Causes Parkinsonism
000E76 (2012)	Ignacio Rubio-Agusti [Royaume-Uni] ; Maja Kojovic ; Mark J. Edwards ; Elaine Murphy ; Hoskote S. Chandrashekar ; Robin H. Lachmann ; Kailash P. Bhatia	Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review.
000F10 (2012)	Rita Horvath [Royaume-Uni] ; Elke Holinski-Feder ; Vivienne C M. Neeve ; Angela Pyle ; Helen Griffin ; Deephthi Ashok ; Charlotte Foley ; Gavin Hudson ; Bernd Rautenstrauss ; Gudrun Nürnberg ; Peter Nürnberg ; Jörg Kortler ; Birgit Neitzel ; Ingelore B Ssmann ; Thahira Rahman ; Bernard Keavney ; John Loughlin ; Sophie Hambleton ; Benedikt Schoser ; Hanns Lochmüller ; Mauro Santibanez-Koref ; Patrick F. Chinnery	A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
000F11 (2012)	Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. Tijssen	A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
000F13 (2012)	Stella Gagliardi ; Annalisa Davin ; Ivana Ricca ; Gaetano S. Grieco ; Roberta Zangaglia ; Francesco Pierelli ; Andrea Ghiroldi ; Claudio Pacchetti ; Carlo Casali ; Cristina Cereda	A new GLUT-1 mutation in a family with glucose transporter 1 deficiency syndrome.
000F29 (2012)	Maja Kojovic [Royaume-Uni] ; Una-Marie Sheerin [Royaume-Uni] ; Ignacio Rubio-Agusti [Royaume-Uni] ; Anirban Saha [Royaume-Uni] ; Jose Bras [Royaume-Uni] ; Vaneesha Gibbons [Royaume-Uni] ; Rodger Palmer [Royaume-Uni] ; Henry Houlden [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]	Young-Onset Parkinsonism due to Homozygous Duplication of α-Synuclein in a Consanguineous Family
001273 (2011)	Robert A. Wilcox [Australie] ; Susen Winkler [Allemagne] ; Katja Lohmann [Allemagne] ; Christine Klein [Allemagne]	Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
001386 (2011)	Marek Bodzioch [Pologne] ; Katarzyna Lapicka-Bodzioch [Pologne] ; Monika Rudzinska [Pologne] ; Jacek J. Pietrzyk [Pologne] ; Miroslaw Bik-Multanowski [Pologne] ; Andrzej Szczudlik [Pologne]	Severe dystonic encephalopathy without hyperphenylalaninemia associated with an 18‐bp deletion within the proximal GCH1 promoter
001511 (2011)	Li Cao [République populaire de Chine] ; Qing-Zhou Fei [République populaire de Chine] ; Wei-Guo Tang ; Jian-Rong Liu [République populaire de Chine] ; Lan Zheng [République populaire de Chine] ; Qin Xiao [République populaire de Chine] ; Song-Bin He ; Yi Fu [République populaire de Chine] ; Sheng-Di Chen [République populaire de Chine]	Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia
001633 (2011)	Susanne A. Schneider [Allemagne, Royaume-Uni] ; Alfredo Ramirez [Allemagne] ; Kaveh Shafiee [Iran] ; Frank J. Kaiser [Allemagne] ; Alev Erogullari [Allemagne] ; Norbert Brüggemann [Allemagne] ; Susen Winkler [Allemagne] ; Ideh Bahman [Iran] ; Alma Osmanovic [Allemagne] ; Mohammad A. Shafa [Iran] ; Kailish P. Bhatia [Royaume-Uni] ; Hossein Najmabadi [Iran] ; Christine Klein [Allemagne] ; Katja Lohmann [Allemagne]	Homozygous THAP1 mutations as cause of early‐onset generalized dystonia

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