Showing 1–25 of 25 results
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Amendments and Corrections |
Erratum: Mutations in different components of FGF signaling in LADD syndrome
- Edyta Rohmann
- , Han G Brunner
- , Hülya Kayserili
- , Oya Uyguner
- , Gudrun Nürnberg
- , Erin D Lew
- , Angus Dobbie
- , Veraragavan P Eswarakumar
- , Abdullah Uzumcu
- , Melike Ulubil-Emeroglu
- , Jules G Leroy
- , Yun Li
- , Christian Becker
- , Kai Lehnerdt
- , Cor W R J Cremers
- , Memnune Yüksel-Apak
- , Peter Nürnberg
- , Christian Kubisch
- , Joseph Schlessinger
- , Hans van Bokhoven
- & Bernd Wollnik
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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
- Birgit S Budde
- , Yasmin Namavar
- , Peter G Barth
- , Bwee Tien Poll-The
- , Gudrun Nürnberg
- , Christian Becker
- , Fred van Ruissen
- , Marian A J Weterman
- , Kees Fluiter
- , Erik T te Beek
- , Eleonora Aronica
- , Marjo S van der Knaap
- , Wolfgang Höhne
- , Mohammad Reza Toliat
- , Yanick J Crow
- , Maja Steinlin
- , Thomas Voit
- , Filip Roelens
- , Wim Brussel
- , Knut Brockmann
- , Marten Kyllerman
- , Eugen Boltshauser
- , Gerhard Hammersen
- , Michèl Willemsen
- , Lina Basel-Vanagaite
- , Ingeborg Krägeloh-Mann
- , Linda S de Vries
- , Laszlo Sztriha
- , Francesco Muntoni
- , Colin D Ferrie
- , Roberta Battini
- , Raoul C M Hennekam
- , Eugenio Grillo
- , Frits A Beemer
- , Loes M E Stoets
- , Bernd Wollnik
- , Peter Nürnberg
- & Frank Baas
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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
- Frank Rutsch
- , Susann Gailus
- , Isabelle R Miousse
- , Terttu Suormala
- , Corinne Sagné
- , Mohammad Reza Toliat
- , Gudrun Nürnberg
- , Tanja Wittkampf
- , Insa Buers
- , Azita Sharifi
- , Martin Stucki
- , Christian Becker
- , Matthias Baumgartner
- , Horst Robenek
- , Thorsten Marquardt
- , Wolfgang Höhne
- , Bruno Gasnier
- , David S Rosenblatt
- , Brian Fowler
- & Peter Nürnberg
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Research |
CEP152 is a genome maintenance protein disrupted in Seckel syndrome
- Ersan Kalay
- , Gökhan Yigit
- , Yakup Aslan
- , Karen E Brown
- , Esther Pohl
- , Louise S Bicknell
- , Hülya Kayserili
- , Yun Li
- , Beyhan Tüysüz
- , Gudrun Nürnberg
- , Wieland Kiess
- , Manfred Koegl
- , Ingelore Baessmann
- , Kurtulus Buruk
- , Bayram Toraman
- , Saadettin Kayipmaz
- , Sibel Kul
- , Mevlit Ikbal
- , Daniel J Turner
- , Martin S Taylor
- , Jan Aerts
- , Carol Scott
- , Karen Milstein
- , Helene Dollfus
- , Dagmar Wieczorek
- , Han G Brunner
- , Matthew Hurles
- , Andrew P Jackson
- , Anita Rauch
- , Peter Nürnberg
- , Ahmet Karagüzel
- & Bernd Wollnik
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Research |
Mutations in different components of FGF signaling in LADD syndrome
- Edyta Rohmann
- , Han G Brunner
- , Hülya Kayserili
- , Oya Uyguner
- , Gudrun Nürnberg
- , Erin D Lew
- , Angus Dobbie
- , Veraragavan P Eswarakumar
- , Abdullah Uzumcu
- , Melike Ulubil-Emeroglu
- , Jules G Leroy
- , Yun Li
- , Christian Becker
- , Kai Lehnerdt
- , Cor W R J Cremers
- , Memnune Yüksel-Apak
- , Peter Nürnberg
- , Christian Kubisch
- , Joseph Schlessinger
- , Hans van Bokhoven
- & Bernd Wollnik
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Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy
- Carol-Anne Martin
- , Ilyas Ahmad
- , Anna Klingseisen
- , Muhammad Sajid Hussain
- , Louise S Bicknell
- , Andrea Leitch
- , Gudrun Nürnberg
- , Mohammad Reza Toliat
- , Jennie E Murray
- , David Hunt
- , Fawad Khan
- , Zafar Ali
- , Sigrid Tinschert
- , James Ding
- , Charlotte Keith
- , Margaret E Harley
- , Patricia Heyn
- , Rolf Müller
- , Ingrid Hoffmann
- , Valérie Cormier Daire
- , Hélène Dollfus
- , Lucie Dupuis
- , Anu Bashamboo
- , Kenneth McElreavey
- , Ariana Kariminejad
- , Roberto Mendoza-Londono
- , Anthony T Moore
- , Anand Saggar
- , Catie Schlechter
- , Richard Weleber
- , Holger Thiele
- , Janine Altmüller
- , Wolfgang Höhne
- , Matthew E Hurles
- , Angelika Anna Noegel
- , Shahid Mahmood Baig
- , Peter Nürnberg
- & Andrew P Jackson
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Research |
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
- Davor Lessel
- , Bruno Vaz
- , Swagata Halder
- , Paul J Lockhart
- , Ivana Marinovic-Terzic
- , Jaime Lopez-Mosqueda
- , Melanie Philipp
- , Joe C H Sim
- , Katherine R Smith
- , Judith Oehler
- , Elisa Cabrera
- , Raimundo Freire
- , Kate Pope
- , Amsha Nahid
- , Fiona Norris
- , Richard J Leventer
- , Martin B Delatycki
- , Gotthold Barbi
- , Simon von Ameln
- , Josef Högel
- , Marina Degoricija
- , Regina Fertig
- , Martin D Burkhalter
- , Kay Hofmann
- , Holger Thiele
- , Janine Altmüller
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Melanie Bahlo
- , George M Martin
- , Cora M Aalfs
- , Junko Oshima
- , Janos Terzic
- , David J Amor
- , Ivan Dikic
- , Kristijan Ramadan
- & Christian Kubisch
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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
- Mathieu Lemaire
- , Véronique Frémeaux-Bacchi
- , Franz Schaefer
- , Murim Choi
- , Wai Ho Tang
- , Moglie Le Quintrec
- , Fadi Fakhouri
- , Sophie Taque
- , François Nobili
- , Frank Martinez
- , Weizhen Ji
- , John D Overton
- , Shrikant M Mane
- , Gudrun Nürnberg
- , Janine Altmüller
- , Holger Thiele
- , Denis Morin
- , Georges Deschenes
- , Véronique Baudouin
- , Brigitte Llanas
- , Laure Collard
- , Mohammed A Majid
- , Eva Simkova
- , Peter Nürnberg
- , Nathalie Rioux-Leclerc
- , Gilbert W Moeckel
- , Marie Claire Gubler
- , John Hwa
- , Chantal Loirat
- & Richard P Lifton
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Research |
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible
- Bernward Hinkes
- , Roger C Wiggins
- , Rasheed Gbadegesin
- , Christopher N Vlangos
- , Dominik Seelow
- , Gudrun Nürnberg
- , Puneet Garg
- , Rakesh Verma
- , Hassan Chaib
- , Bethan E Hoskins
- , Shazia Ashraf
- , Christian Becker
- , Hans Christian Hennies
- , Meera Goyal
- , Bryan L Wharram
- , Asher D Schachter
- , Sudha Mudumana
- , Iain Drummond
- , Dontscho Kerjaschki
- , Rüdiger Waldherr
- , Alexander Dietrich
- , Fatih Ozaltin
- , Aysin Bakkaloglu
- , Roxana Cleper
- , Lina Basel-Vanagaite
- , Martin Pohl
- , Martin Griebel
- , Alexey N Tsygin
- , Alper Soylu
- , Dominik Müller
- , Caroline S Sorli
- , Tom D Bunney
- , Matilda Katan
- , Jinhong Liu
- , Massimo Attanasio
- , John F O'Toole
- , Katrin Hasselbacher
- , Bettina Mucha
- , Edgar A Otto
- , Rannar Airik
- , Andreas Kispert
- , Grant G Kelley
- , Alan V Smrcka
- , Thomas Gudermann
- , Lawrence B Holzman
- , Peter Nürnberg
- & Friedhelm Hildebrandt
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Research |
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
- John A Sayer
- , Edgar A Otto
- , John F O'Toole
- , Gudrun Nurnberg
- , Michael A Kennedy
- , Christian Becker
- , Hans Christian Hennies
- , Juliana Helou
- , Massimo Attanasio
- , Blake V Fausett
- , Boris Utsch
- , Hemant Khanna
- , Yan Liu
- , Iain Drummond
- , Isao Kawakami
- , Takehiro Kusakabe
- , Motoyuki Tsuda
- , Li Ma
- , Hwankyu Lee
- , Ronald G Larson
- , Susan J Allen
- , Christopher J Wilkinson
- , Erich A Nigg
- , Chengchao Shou
- , Concepcion Lillo
- , David S Williams
- , Bernd Hoppe
- , Markus J Kemper
- , Thomas Neuhaus
- , Melissa A Parisi
- , Ian A Glass
- , Marianne Petry
- , Andreas Kispert
- , Joachim Gloy
- , Athina Ganner
- , Gerd Walz
- , Xueliang Zhu
- , Daniel Goldman
- , Peter Nurnberg
- , Anand Swaroop
- , Michel R Leroux
- & Friedhelm Hildebrandt
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Research |
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
- Edgar A Otto
- , Toby W Hurd
- , Rannar Airik
- , Moumita Chaki
- , Weibin Zhou
- , Corinne Stoetzel
- , Suresh B Patil
- , Shawn Levy
- , Amiya K Ghosh
- , Carlos A Murga-Zamalloa
- , Jeroen van Reeuwijk
- , Stef J F Letteboer
- , Liyun Sang
- , Rachel H Giles
- , Qin Liu
- , Karlien L M Coene
- , Alejandro Estrada-Cuzcano
- , Rob W J Collin
- , Heather M McLaughlin
- , Susanne Held
- , Jennifer M Kasanuki
- , Gokul Ramaswami
- , Jinny Conte
- , Irma Lopez
- , Joseph Washburn
- , James MacDonald
- , Jinghua Hu
- , Yukiko Yamashita
- , Eamonn R Maher
- , Lisa M Guay-Woodford
- , Hartmut P H Neumann
- , Nicholas Obermüller
- , Robert K Koenekoop
- , Carsten Bergmann
- , Xiaoshu Bei
- , Richard A Lewis
- , Nicholas Katsanis
- , Vanda Lopes
- , David S Williams
- , Robert H Lyons
- , Chi V Dang
- , Daniela A Brito
- , Mónica Bettencourt Dias
- , Xinmin Zhang
- , James D Cavalcoli
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Eric A Pierce
- , Peter K Jackson
- , Corinne Antignac
- , Sophie Saunier
- , Ronald Roepman
- , Helene Dollfus
- , Hemant Khanna
- & Friedhelm Hildebrandt
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Research |
Mutations in PYCR1 cause cutis laxa with progeroid features
- Bruno Reversade
- , Nathalie Escande-Beillard
- , Aikaterini Dimopoulou
- , Björn Fischer
- , Serene C Chng
- , Yun Li
- , Mohammad Shboul
- , Puay-Yoke Tham
- , Hülya Kayserili
- , Lihadh Al-Gazali
- , Monzer Shahwan
- , Francesco Brancati
- , Hane Lee
- , Brian D O'Connor
- , Mareen Schmidt-von Kegler
- , Barry Merriman
- , Stanley F Nelson
- , Amira Masri
- , Fawaz Alkazaleh
- , Deanna Guerra
- , Paola Ferrari
- , Arti Nanda
- , Anna Rajab
- , David Markie
- , Mary Gray
- , John Nelson
- , Arthur Grix
- , Annemarie Sommer
- , Ravi Savarirayan
- , Andreas R Janecke
- , Elisabeth Steichen
- , David Sillence
- , Ingrid Haußer
- , Birgit Budde
- , Gudrun Nürnberg
- , Peter Nürnberg
- , Petra Seemann
- , Désirée Kunkel
- , Giovanna Zambruno
- , Bruno Dallapiccola
- , Markus Schuelke
- , Stephen Robertson
- , Hanan Hamamy
- , Bernd Wollnik
- , Lionel Van Maldergem
- , Stefan Mundlos
- & Uwe Kornak
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Research |
Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
- Bodo B Beck
- , Anne Baasner
- , Anja Buescher
- , Sandra Habbig
- , Nadine Reintjes
- , Markus J Kemper
- , Przemyslaw Sikora
- , Christoph Mache
- , Martin Pohl
- , Mirjam Stahl
- , Burkhard Toenshoff
- , Lars Pape
- , Henry Fehrenbach
- , Dorrit E Jacob
- , Bernd Grohe
- , Matthias T Wolf
- , Gudrun Nürnberg
- , Gökhan Yigit
- , Eduardo C Salido
- & Bernd Hoppe
