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Research | 11 June 2018
Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses
- Florian Erger
- , Karin Burau
- , Michael Elsässer
- , Katharina Zimmermann
- , Ute Moog
- & Christian Netzer
European Journal of Human Genetics 26 , 1392–1395

Rights & permissionsfor article Uniparental isodisomy as a cause of recessive Mendelian disease: a diagnostic pitfall with a quick and easy solution in medium/large NGS analyses . Opens in a new window.
7 May 2014
Genome-wide UPD screening in patients with intellectual disability
- Christopher Schroeder
- , Arif Bülent Ekici
- , Ute Moog
- , Ute Grasshoff
- , Ulrike Mau-Holzmann
- , Marc Sturm
- , Vanessa Vosseler
- , Sven Poths
- , Gudrun Rappold
- , Angelika Riess
- , Olaf Riess
- , Andreas Dufke
- & Michael Bonin
European Journal of Human Genetics 22 , 1233–1235

Rights & permissionsfor article Genome-wide UPD screening in patients with intellectual disability . Opens in a new window.
Amendments and Corrections | 29 July 2015
Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception
- Ya-Chun Chen
- , Michaela Auer-Grumbach
- , Shinya Matsukawa
- , Manuela Zitzelsberger
- , Andreas C Themistocleous
- , Tim M Strom
- , Chrysanthi Samara
- , Adrian W Moore
- , Lily Ting-Yin Cho
- , Gareth T Young
- , Caecilia Weiss
- , Maria Schabhüttl
- , Rolf Stucka
- , Annina B Schmid
- , Yesim Parman
- , Luitgard Graul-Neumann
- , Wolfram Heinritz
- , Eberhard Passarge
- , Rosemarie M Watson
- , Jens Michael Hertz
- , Ute Moog
- , Manuela Baumgartner
- , Enza Maria Valente
- , Diego Pereira
- , Carlos M Restrepo
- , Istvan Katona
- , Marina Dusl
- , Claudia Stendel
- , Thomas Wieland
- , Fay Stafford
- , Frank Reimann
- , Katja von Au
- , Christian Finke
- , Patrick J Willems
- , Michael S Nahorski
- , Samiha S Shaikh
- , Ofélia P Carvalho
- , Adeline K Nicholas
- , Gulshan Karbani
- , Maeve A McAleer
- , Maria Roberta Cilio
- , John C McHugh
- , Sinead M Murphy
- , Alan D Irvine
- , Uffe Birk Jensen
- , Reinhard Windhager
- , Joachim Weis
- , Carsten Bergmann
- , Bernd Rautenstrauss
- , Jonathan Baets
- , Peter De Jonghe
- , Mary M Reilly
- , Regina Kropatsch
- , Ingo Kurth
- , Roman Chrast
- , Tatsuo Michiue
- , David L H Bennett
- , C Geoffrey Woods
- & Jan Senderek
Nature Genetics 47 , 962–962

Rights & permissionsfor article Correction: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception . Opens in a new window.
Research | 25 March 2015
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract
European Journal of Human Genetics 23 , 1627–1633

Rights & permissionsfor article <i>SIPA1L3</i> identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract . Opens in a new window.
Research | 4 February 2015
Next-generation sequencing in X-linked intellectual disability
- Andreas Tzschach
- , Ute Grasshoff
- , Stefanie Beck-Woedl
- , Claudia Dufke
- , Claudia Bauer
- , Martin Kehrer
- , Christina Evers
- , Ute Moog
- , Barbara Oehl-Jaschkowitz
- , Nataliya Di Donato
- , Robert Maiwald
- , Christine Jung
- , Alma Kuechler
- , Solveig Schulz
- , Peter Meinecke
- , Stephanie Spranger
- , Jürgen Kohlhase
- , Jörg Seidel
- , Silke Reif
- , Manuela Rieger
- , Angelika Riess
- , Marc Sturm
- , Julia Bickmann
- , Christopher Schroeder
- , Andreas Dufke
- , Olaf Riess
- & Peter Bauer
European Journal of Human Genetics 23 , 1513–1518

Rights & permissionsfor article Next-generation sequencing in X-linked intellectual disability . Opens in a new window.
13 August 2014
Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia
- Ann-Sophie Kaiser
- , Bianca Maas
- , Anna Wolff
- , Christian Sutter
- , Johannes WG Janssen
- , Katrin Hinderhofer
- & Ute Moog
European Journal of Human Genetics 23 , 704–707

Rights & permissionsfor article Characterization of the first intragenic <i>SATB2</i> duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia . Opens in a new window.
Research | 27 May 2009
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients
- Hartmut Engels
- , Eva Wohlleber
- , Alexander Zink
- , Juliane Hoyer
- , Kerstin U Ludwig
- , Felix F Brockschmidt
- , Dagmar Wieczorek
- , Ute Moog
- , Birgit Hellmann-Mersch
- , Ruthild G Weber
- , Lionel Willatt
- , Martina Kreiß-Nachtsheim
- , Helen V Firth
- & Anita Rauch
European Journal of Human Genetics 17 , 1592–1599

Rights & permissionsfor article A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients . Opens in a new window.
1 November 2002
Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the dHAND gene
Genetics in Medicine 4 , 464–467

Rights & permissionsfor article Cardiac phenotypes in chromosome 4q− syndrome with and without a deletion of the <i>dHAND</i> gene . Opens in a new window.
Research | 16 May 2010
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
- Simone Berkel
- , Christian R Marshall
- , Birgit Weiss
- , Jennifer Howe
- , Ralph Roeth
- , Ute Moog
- , Volker Endris
- , Wendy Roberts
- , Peter Szatmari
- , Dalila Pinto
- , Michael Bonin
- , Angelika Riess
- , Hartmut Engels
- , Rolf Sprengel
- , Stephen W Scherer
- & Gudrun A Rappold
Nature Genetics 42 , 489–491

Rights & permissionsfor article Mutations in the <i>SHANK2</i> synaptic scaffolding gene in autism spectrum disorder and mental retardation . Opens in a new window.
Books and Arts | 21 February 2008
It's in a chart!
- Ute Moog
European Journal of Human Genetics 16 , 401–401

Rights & permissionsfor article It's in a chart! . Opens in a new window.
Research | 9 April 2008
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression
European Journal of Human Genetics 16 , 1029–1037

Rights & permissionsfor article <i>MCT8</i> mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of <i>MCT8</i> expression . Opens in a new window.
Research | 25 November 2019
Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
- Christian Staufner
- , Bianca Peters
- , Matias Wagner
- , Seham Alameer
- , Ivo Barić
- , Pierre Broué
- , Derya Bulut
- , Joseph A. Church
- , Ellen Crushell
- , Buket Dalgıç
- , Anibh M. Das
- , Anke Dick
- , Nicola Dikow
- , Carlo Dionisi-Vici
- , Felix Distelmaier
- , Neslihan Ekşi Bozbulut
- , François Feillet
- , Emmanuel Gonzales
- , Nedim Hadzic
- , Fabian Hauck
- , Robert Hegarty
- , Maja Hempel
- , Theresia Herget
- , Christoph Klein
- , Vassiliki Konstantopoulou
- , Robert Kopajtich
- , Alice Kuster
- , Martin W. Laass
- , Elke Lainka
- , Catherine Larson-Nath
- , Alexander Leibner
- , Eberhard Lurz
- , Johannes A. Mayr
- , Patrick McKiernan
- , Karine Mention
- , Ute Moog
- , Neslihan Onenli Mungan
- , Korbinian M. Riedhammer
- , René Santer
- , Irene Valenzuela Palafoll
- , Jerry Vockley
- , Dominik S. Westphal
- , Arnaud Wiedemann
- , Saskia B. Wortmann
- , Gaurav D. Diwan
- , Robert B. Russell
- , Holger Prokisch
- , Sven F. Garbade
- , Stefan Kölker
- , Georg F. Hoffmann
- & Dominic Lenz
Genetics in Medicine 22 , 610–621

Rights & permissionsfor article Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients . Opens in a new window.
Research | 25 May 2015
Transcriptional regulator PRDM12 is essential for human pain perception
- Ya-Chun Chen
- , Michaela Auer-Grumbach
- , Shinya Matsukawa
- , Manuela Zitzelsberger
- , Andreas C Themistocleous
- , Tim M Strom
- , Chrysanthi Samara
- , Adrian W Moore
- , Lily Ting-Yin Cho
- , Gareth T Young
- , Caecilia Weiss
- , Maria Schabhüttl
- , Rolf Stucka
- , Annina B Schmid
- , Yesim Parman
- , Luitgard Graul-Neumann
- , Wolfram Heinritz
- , Eberhard Passarge
- , Rosemarie M Watson
- , Jens Michael Hertz
- , Ute Moog
- , Manuela Baumgartner
- , Enza Maria Valente
- , Diego Pereira
- , Carlos M Restrepo
- , Istvan Katona
- , Marina Dusl
- , Claudia Stendel
- , Thomas Wieland
- , Fay Stafford
- , Frank Reimann
- , Katja von Au
- , Christian Finke
- , Patrick J Willems
- , Michael S Nahorski
- , Samiha S Shaikh
- , Ofélia P Carvalho
- , Adeline K Nicholas
- , Gulshan Karbani
- , Maeve A McAleer
- , Maria Roberta Cilio
- , John C McHugh
- , Sinead M Murphy
- , Alan D Irvine
- , Uffe Birk Jensen
- , Reinhard Windhager
- , Joachim Weis
- , Carsten Bergmann
- , Bernd Rautenstrauss
- , Jonathan Baets
- , Peter De Jonghe
- , Mary M Reilly
- , Regina Kropatsch
- , Ingo Kurth
- , Roman Chrast
- , Tatsuo Michiue
- , David L H Bennett
- , C Geoffrey Woods
- & Jan Senderek
Nature Genetics 47 , 803–808

Rights & permissionsfor article Transcriptional regulator PRDM12 is essential for human pain perception . Opens in a new window.
Research | 3 October 2010
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
Nature Genetics 42 , 1021–1026

Rights & permissionsfor article Mutations in <i>GRIN2A</i> and <i>GRIN2B</i> encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes . Opens in a new window.

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