Showing 1–30 of 30 results
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia
- Mette Gilling
- , Marlene Briciet Lauritsen
- , Morten Møller
- , Karen Friis Henriksen
- , Astrid Vicente
- , Guiomar Oliveira
- , Christina Cintin
- , Hans Eiberg
- , Paal Skyt Andersen
- , Ole Mors
- , Thomas Rosenberg
- , Karen Brøndum-Nielsen
- , Rodney M J Cotterill
- , Claes Lundsteen
- , Hans-Hilger Ropers
- , Reinhard Ullmann
- , Iben Bache
- , Zeynep Tümer
- & Niels Tommerup
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Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
- Wei Chen
- , Reinhard Ullmann
- , Claudia Langnick
- , Corinna Menzel
- , Zofia Wotschofsky
- , Hao Hu
- , Andreas Döring
- , Yuhui Hu
- , Hui Kang
- , Andreas Tzschach
- , Maria Hoeltzenbein
- , Heidemarie Neitzel
- , Susanne Markus
- , Eberhard Wiedersberg
- , Gerd Kistner
- , Conny MA van Ravenswaaij-Arts
- , Tjitske Kleefstra
- , Vera M Kalscheuer
- & Hans-Hilger Ropers
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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Lars R Jensen
- , Wei Chen
- , Bettina Moser
- , Bettina Lipkowitz
- , Christopher Schroeder
- , Luciana Musante
- , Andreas Tzschach
- , Vera M Kalscheuer
- , Ilaria Meloni
- , Martine Raynaud
- , Hilde van Esch
- , Jamel Chelly
- , Arjan P M de Brouwer
- , Anna Hackett
- , Sigrun van der Haar
- , Wolfram Henn
- , Jozef Gecz
- , Olaf Riess
- , Michael Bonin
- , Richard Reinhardt
- , Hans-Hilger Ropers
- & Andreas W Kuss
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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
- Vera M Kalscheuer
- , Kristine Freude
- , Luciana Musante
- , Lars R Jensen
- , Helger G Yntema
- , Jozef Gécz
- , Abdelaziz Sefiani
- , Kirsten Hoffmann
- , Bettina Moser
- , Stefan Haas
- , Ulf Gurok
- , Sebastian Haesler
- , Beatriz Aranda
- , Arpik Nshedjan
- , Andreas Tzschach
- , Nils Hartmann
- , Tim-Christoph Roloff
- , Sarah Shoichet
- , Olivier Hagens
- , Jiong Tao
- , Hans van Bokhoven
- , Gillian Turner
- , Jamel Chelly
- , Claude Moraine
- , Jean-Pierre Fryns
- , Ulrike Nuber
- , Maria Hoeltzenbein
- , Constance Scharff
- , Harry Scherthan
- , Steffen Lenzner
- , Ben C J Hamel
- , Susann Schweiger
- & Hans-Hilger Ropers
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MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
- Suzanna Gerarda Maria Frints
- , Steffen Lenzner
- , Mareike Bauters
- , Lars Riff Jensen
- , Hilde Van Esch
- , Vincent des Portes
- , Ute Moog
- , Merryn Victor Erik Macville
- , Kees van Roozendaal
- , Constance Theresia Rimbertha Maria Schrander-Stumpel
- , Andreas Tzschach
- , Peter Marynen
- , Jean-Pierre Fryns
- , Ben Hamel
- , Hans van Bokhoven
- , Jamel Chelly
- , Chérif Beldjord
- , Gillian Turner
- , Jozef Gecz
- , Claude Moraine
- , Martine Raynaud
- , Hans Hilger Ropers
- , Guy Froyen
- & Andreas Walter Kuss
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FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation
- Ilaria Meloni
- , Maddalena Muscettola
- , Martine Raynaud
- , Ilaria Longo
- , Mirella Bruttini
- , Marie-Pierre Moizard
- , Marie Gomot
- , Jamel Chelly
- , Vincent des Portes
- , Jean-Pierre Fryns
- , Hans-Hilger Ropers
- , Barbara Magi
- , Cristina Bellan
- , Nila Volpi
- , Helger G. Yntema
- , Sarah E. Lewis
- , Jean E. Schaffer
- & Alessandra Renieri
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Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder
- Suzanna G. M. Frints
- , Aysegul Ozanturk
- , Germán Rodríguez Criado
- , Ute Grasshoff
- , Bas de Hoon
- , Michael Field
- , Sylvie Manouvrier-Hanu
- , Scott E. Hickey
- , Molka Kammoun
- , Karen W. Gripp
- , Claudia Bauer
- , Christopher Schroeder
- , Annick Toutain
- , Theresa Mihalic Mosher
- , Benjamin J. Kelly
- , Peter White
- , Andreas Dufke
- , Eveline Rentmeester
- , Sungjin Moon
- , Daniel C Koboldt
- , Kees E. P. van Roozendaal
- , Hao Hu
- , Stefan A. Haas
- , Hans-Hilger Ropers
- , Lucinda Murray
- , Eric Haan
- , Marie Shaw
- , Renee Carroll
- , Kathryn Friend
- , Jan Liebelt
- , Lynne Hobson
- , Marjan De Rademaeker
- , Joep Geraedts
- , Jean-Pierre Fryns
- , Joris Vermeesch
- , Martine Raynaud
- , Olaf Riess
- , Joost Gribnau
- , Nicholas Katsanis
- , Koen Devriendt
- , Peter Bauer
- , Jozef Gecz
- , Christelle Golzio
- , Cristina Gontan
- & Vera M. Kalscheuer
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Genetics of intellectual disability in consanguineous families
- Hao Hu
- , Kimia Kahrizi
- , Luciana Musante
- , Zohreh Fattahi
- , Ralf Herwig
- , Masoumeh Hosseini
- , Cornelia Oppitz
- , Seyedeh Sedigheh Abedini
- , Vanessa Suckow
- , Farzaneh Larti
- , Maryam Beheshtian
- , Bettina Lipkowitz
- , Tara Akhtarkhavari
- , Sepideh Mehvari
- , Sabine Otto
- , Marzieh Mohseni
- , Sanaz Arzhangi
- , Payman Jamali
- , Faezeh Mojahedi
- , Maryam Taghdiri
- , Elaheh Papari
- , Mohammad Javad Soltani Banavandi
- , Saeide Akbari
- , Seyed Hassan Tonekaboni
- , Hossein Dehghani
- , Mohammad Reza Ebrahimpour
- , Ingrid Bader
- , Behzad Davarnia
- , Monika Cohen
- , Hossein Khodaei
- , Beate Albrecht
- , Sarah Azimi
- , Birgit Zirn
- , Milad Bastami
- , Dagmar Wieczorek
- , Gholamreza Bahrami
- , Krystyna Keleman
- , Leila Nouri Vahid
- , Andreas Tzschach
- , Jutta Gärtner
- , Gabriele Gillessen-Kaesbach
- , Jamileh Rezazadeh Varaghchi
- , Bernd Timmermann
- , Fatemeh Pourfatemi
- , Aria Jankhah
- , Wei Chen
- , Pooneh Nikuei
- , Vera M. Kalscheuer
- , Morteza Oladnabi
- , Thomas F. Wienker
- , Hans-Hilger Ropers
- & Hossein Najmabadi
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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
- Zafar Iqbal
- , Lucia Püttmann
- , Luciana Musante
- , Attia Razzaq
- , Muhammad Yasir Zahoor
- , Hao Hu
- , Thomas F Wienker
- , Masoud Garshasbi
- , Zohreh Fattahi
- , Christian Gilissen
- , Lisenka ELM Vissers
- , Arjan PM de Brouwer
- , Joris A Veltman
- , Rolph Pfundt
- , Hossein Najmabadi
- , Hans-Hilger Ropers
- , Sheikh Riazuddin
- , Kimia Kahrizi
- & Hans van Bokhoven
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Redefining the MED13L syndrome
- Abidemi Adegbola
- , Luciana Musante
- , Bert Callewaert
- , Patricia Maciel
- , Hao Hu
- , Bertrand Isidor
- , Sylvie Picker-Minh
- , Cedric Le Caignec
- , Barbara Delle Chiaie
- , Olivier Vanakker
- , Björn Menten
- , Annelies Dheedene
- , Nele Bockaert
- , Filip Roelens
- , Karin Decaestecker
- , João Silva
- , Gabriela Soares
- , Fátima Lopes
- , Hossein Najmabadi
- , Kimia Kahrizi
- , Gerald F Cox
- , Steven P Angus
- , John F Staropoli
- , Ute Fischer
- , Vanessa Suckow
- , Oliver Bartsch
- , Andrew Chess
- , Hans-Hilger Ropers
- , Thomas F Wienker
- , Christoph Hübner
- , Angela M Kaindl
- & Vera M Kalscheuer
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
- Sabine Endele
- , Georg Rosenberger
- , Kirsten Geider
- , Bernt Popp
- , Ceyhun Tamer
- , Irina Stefanova
- , Mathieu Milh
- , Fanny Kortüm
- , Angela Fritsch
- , Friederike K Pientka
- , Yorck Hellenbroich
- , Vera M Kalscheuer
- , Jürgen Kohlhase
- , Ute Moog
- , Gudrun Rappold
- , Anita Rauch
- , Hans-Hilger Ropers
- , Sarah von Spiczak
- , Holger Tönnies
- , Nathalie Villeneuve
- , Laurent Villard
- , Bernhard Zabel
- , Martin Zenker
- , Bodo Laube
- , André Reis
- , Dagmar Wieczorek
- , Lionel Van Maldergem
- & Kerstin Kutsche
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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
- Patrick S Tarpey
- , Raffaella Smith
- , Erin Pleasance
- , Annabel Whibley
- , Sarah Edkins
- , Claire Hardy
- , Sarah O'Meara
- , Calli Latimer
- , Ed Dicks
- , Andrew Menzies
- , Phil Stephens
- , Matt Blow
- , Chris Greenman
- , Yali Xue
- , Chris Tyler-Smith
- , Deborah Thompson
- , Kristian Gray
- , Jenny Andrews
- , Syd Barthorpe
- , Gemma Buck
- , Jennifer Cole
- , Rebecca Dunmore
- , David Jones
- , Mark Maddison
- , Tatiana Mironenko
- , Rachel Turner
- , Kelly Turrell
- , Jennifer Varian
- , Sofie West
- , Sara Widaa
- , Paul Wray
- , Jon Teague
- , Adam Butler
- , Andrew Jenkinson
- , Mingming Jia
- , David Richardson
- , Rebecca Shepherd
- , Richard Wooster
- , M Isabel Tejada
- , Francisco Martinez
- , Gemma Carvill
- , Rene Goliath
- , Arjan P M de Brouwer
- , Hans van Bokhoven
- , Hilde Van Esch
- , Jamel Chelly
- , Martine Raynaud
- , Hans-Hilger Ropers
- , Fatima E Abidi
- , Anand K Srivastava
- , James Cox
- , Ying Luo
- , Uma Mallya
- , Jenny Moon
- , Josef Parnau
- , Shehla Mohammed
- , John L Tolmie
- , Cheryl Shoubridge
- , Mark Corbett
- , Alison Gardner
- , Eric Haan
- , Sinitdhorn Rujirabanjerd
- , Marie Shaw
- , Lucianne Vandeleur
- , Tod Fullston
- , Douglas F Easton
- , Jackie Boyle
- , Michael Partington
- , Anna Hackett
- , Michael Field
- , Cindy Skinner
- , Roger E Stevenson
- , Martin Bobrow
- , Gillian Turner
- , Charles E Schwartz
- , Jozef Gecz
- , F Lucy Raymond
- , P Andrew Futreal
- & Michael R Stratton
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