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Rikke Steensbjerre Møller

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Sarah Weckhuysen; Simone Yendle; Kenou van Rijckevorsel; Nadia Boutry-Kryza; Julitta de Bellescize; Peter De Jonghe; Charlotte Dielman; Deepak Gill; Catherine Godfraind; Daniele Hasaerts; Ingo Helbig; Rik Hendrickx; Helle Hjalgrim; Philip Holmgren; Anna C Jansen; Laura Klitten; Christian Korff; Gaetan Lesca; Rikke Steensbjerre Møller; Ingrid E Scheffer; Sarah Von Spiczak; Arvid Suls
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Dennis Lal; Holger Lerche; Costin Leu; Rikke Steensbjerre Møller; Bernd A Neubauer; Peter Nürnberg; Janina S Ried; Thomas Sander; Christoph J Schankin; Rainer Surges; Holger Trucks; Frank Visscher; Yvonne G Weber; Fritz Zimprich; Felicitas Becker; Carolien G F de Kovel; Andre Franke; Helle Hjalgrim; Thomas Illig; Bobby P C Koeleman; Wolfram S Kunz
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Rikke Steensbjerre Møller; Hiltrud Muhle; Ina-Maria Rückert; Thomas Sander; Stefan Schreiber; Claudia Schurmann; Ulrich Stephani; Niels Tommerup; Holger Trucks; Yvonne G Weber; H-Erich Wichmann; Peter Wolf; Dieter Dennig; Jan P Ernst; Andre Franke; Hans J Grabe; Ingo Helbig; Helle Hjalgrim; Monika Kautza; Laura L Klitten; Wolfram S Kunz; Holger Lerche; Heather C Mefford
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.

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2013: Sarah Weckhuysen; Simone Yendle; Kenou van Rijckevorsel; Nadia Boutry-Kryza; Julitta de Bellescize; Peter De Jonghe; Charlotte Dielman; Deepak Gill; Catherine Godfraind; Daniele Hasaerts; Ingo Helbig; Rik Hendrickx; Helle Hjalgrim; Philip Holmgren; Anna C Jansen; Laura Klitten; Christian Korff; Gaetan Lesca; Rikke Steensbjerre Møller; Ingrid E Scheffer; Sarah Von Spiczak; Arvid Suls
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Epilepsia 2013;54(5):e74-80.
2013: Dennis Lal; Holger Lerche; Costin Leu; Rikke Steensbjerre Møller; Bernd A Neubauer; Peter Nürnberg; Janina S Ried; Thomas Sander; Christoph J Schankin; Rainer Surges; Holger Trucks; Frank Visscher; Yvonne G Weber; Fritz Zimprich; Felicitas Becker; Carolien G F de Kovel; Andre Franke; Helle Hjalgrim; Thomas Illig; Bobby P C Koeleman; Wolfram S Kunz
Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy.
Epilepsia 2013;54(2):265-71.
2013: Rikke Steensbjerre Møller; Hiltrud Muhle; Ina-Maria Rückert; Thomas Sander; Stefan Schreiber; Claudia Schurmann; Ulrich Stephani; Niels Tommerup; Holger Trucks; Yvonne G Weber; H-Erich Wichmann; Peter Wolf; Dieter Dennig; Jan P Ernst; Andre Franke; Hans J Grabe; Ingo Helbig; Helle Hjalgrim; Monika Kautza; Laura L Klitten; Wolfram S Kunz; Holger Lerche; Heather C Mefford
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy.
Epilepsia 2013;54(2):256-64.
2013: Martin H Berryer; Lionel Carmant; Miriam H Beauchamp; Céline Belhumeur; Sylvia Dobrzeniecka; Christine M Eng; Fadi F Hamdan; Helle Hjalgrim; Ladonna Immken; Laura L Klitten; Jean-Claude Lacaille; Jacek Majewski; Jacques L Michaud; Rikke Steensbjerre Møller; Mathilde Neugnot-Cerioli; Zhiyv Niu; Sylvain Palardy; Gayle Simpson Patel; Lysanne Patry; Daniel Rochefort; Guy A Rouleau; Klaus Scheffzek; Jeremy Schwartzentruber; Mark A Tarnopolsky; Niels Tommerup; Yaping Yang; Graziella Di Cristo
Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Human mutation 2013;34(2):385-94.
2012: Linda P Jakobsen; L L Klitten; Y Mang; Rikke Steensbjerre Møller; P Pfeiffer; M Andersen; M Bak; Hans Eiberg; Lars Hansen; Niels Tommerup
Genetic studies in congenital anterior midline cervical cleft.
American journal of medical genetics. Part A 2012;158A(8):2021-6.
2012: Lars Kjærsgaard Hansen; Rikke Steensbjerre Møller; Lilian Bomme Ousager; Peter V Uldall; Helle Hjalgrim
[Genetic causes of infantile spasms--a systematic review].
Ugeskrift for laeger 2012;174(17):1152-5.
2012: Linh Duong; Helle Hjalgrim; Andrés Ingason; Klaus D Jakobsen; Laura L Klitten; Rikke Steensbjerre Møller; Celina Skjødt; Michael Didriksen; Thomas Werge; Niels Tommerup
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2012;159B(3):354-8.
2012: Giuliano Avanzini; Stephanie Baulac; Betul Baykan; Nerses Bebek; Francesca Beccaria; Felicitas Becker; Samuel F Berkovic; Amedeo Bianchi; Francesca Bisulli; Hande Caglayan; Antonietta Coppola; Athanasios Covanis; Carolien G F de Kovel; Christian E Elger; Kate V Everett; Martha Feucht; Mark R Gardiner; Verena Gaus; Anna Teresa Giallonardo; Renzo Guerrini; Kerstin Hallman; Anne Hempelmann; Helle Hjalgrim; Dieter Janz; Radka Kaneva; Ailing A Kleefuss-Lie; Bobby P C Koeleman; Wolfram S Kunz; Eric Leguern; Anna-Elina Lehesjoki; Holger Lerche; Costin Leu; Dick Lindhout; Carla Marini; Rikke Steensbjerre Møller; Hiltrud Muhle; Saul Mullen; Rima Nabbout; Peter Nürnberg; Ugur Ozbek; Marianna Pezzella; Angela Robbiano; Felix Rosenow; Franz Rüschendorf; Ingrid E Scheffer; Bettina Schmitz; Herbert Schulz; Jose M Serratosa; Auli Siren; Ulrich Stephani; Pasquale Striano; Arvid Suls; Dorothée Kasteleijn-Nolst Trenité; Holger Trucks; Dilsad Turkdogan; Iris Unterberger; Yvonne G Weber; Sarah Weckhuysen; Federico Zara; Thomas Sander
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
Epilepsia 2012;53(2):308-18.
2011: Laura L Klitten; Rikke Steensbjerre Møller; Marina Nikanorova; Asli Silahtaroglu; Helle Hjalgrim; Niels Tommerup
A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).
Epilepsia 2011;52(12):e190-3.
2011: Roxana Kariminejad; Allan Lind-Thomsen; Fikret Erdogan; Hans H Ropers; Niels Tommerup; Zeynep Tümer; Reinhard Ullmann; Rikke Steensbjerre Møller
High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.
Human mutation 2011;32(12):1427-35.
2011: Karin Bækgaard Nissen; Charlotte Søndergaard; Thomas Thelle; Rikke Steensbjerre Møller
[Mowat-Wilson syndrome: a report of three Danish cases].
Ugeskrift for laeger 2011;173(36):2199-200.
2011: K Svenstrup; E Budtz-Jørgensen; J Christensen; M Gilling; Rikke Steensbjerre Møller; Jørgen E Nielsen
NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2011;18(9):1197-9.
2011: Rikke Steensbjerre Møller; Helle Hjalgrim
[Submicroscopic chromosomal changes predispose to generalised epilepsy].
Ugeskrift for laeger 2011;173(16-17):1201-4.
2011: Laura L Klitten; Rikke Steensbjerre Møller; Kirstine Ravn; Helle Hjalgrim; Niels Tommerup
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.
European journal of human genetics : EJHG 2011;19(1):1-2.
2010: Line T Sehested; Rikke Steensbjerre Møller; Iben Bache; Noemi B Andersen; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features.
American journal of medical genetics. Part A 2010;152A(12):3115-9.
2010: Carolien G F de Kovel; Holger Trucks; Ingo Helbig; Heather C Mefford; Carl Baker; Costin Leu; Christian Kluck; Hiltrud Muhle; Sarah von Spiczak; Philipp Ostertag; Tanja Obermeier; Ailing A Kleefuss-Lie; Kerstin Hallmann; Michael Steffens; Verena Gaus; Karl M Klein; Hajo M Hamer; Felix Rosenow; Eva H Brilstra; Dorothée Kasteleijn-Nolst Trenité; Marielle E M Swinkels; Yvonne G Weber; Iris Unterberger; Fritz Zimprich; Lydia Urak; Martha Feucht; Karoline Fuchs; Rikke Steensbjerre Møller; Helle Hjalgrim; Peter De Jonghe; Arvid Suls; Ina-Maria Rückert; Heinz-Erich Wichmann; Andre Franke; Stefan Schreiber; Peter Nürnberg; Christian E Elger; Holger Lerche; Ulrich Stephani; Bobby P C Koeleman; Dick Lindhout; Evan E Eichler; Thomas Sander
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Brain : a journal of neurology 2010;133(Pt 1):23-32.
2009: Litu Zhang; Zeynep Tümer; Kjeld Møllgård; Gotthold Barbi; Eva Rossier; Eske Bendsen; Rikke Steensbjerre Møller; Reinhard Ullmann; Jian He; Nickolas Papadopoulos; Niels Tommerup; Lars Larsen
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
European journal of human genetics : EJHG 2009;17(8):1010-8.
2009: Laura L Klitten; Niels Tommerup; Helle Hjalgrim; Rikke Steensbjerre Møller
9q Subtelomeric deletion syndrome with diaphragmatic hernia.
American journal of medical genetics. Part A 2009;149A(5):1086-8.
2009: Ingo Helbig; Heather C Mefford; Andrew J Sharp; Michel Guipponi; Marco Fichera; Andre Franke; Hiltrud Muhle; Carolien de Kovel; Carl Baker; Sarah von Spiczak; Katherine L Kron; Ines Steinich; Ailing A Kleefuss-Lie; Costin Leu; Verena Gaus; Bettina Schmitz; Karl M Klein; Philipp S Reif; Felix Rosenow; Yvonne Weber; Holger Lerche; Fritz Zimprich; Lydia Urak; Karoline Fuchs; Martha Feucht; Pierre Genton; Pierre Thomas; Frank Visscher; Gerrit-Jan de Haan; Rikke Steensbjerre Møller; Helle Hjalgrim; Daniela Luciano; Michael Wittig; Michael Nothnagel; Christian E Elger; Peter Nürnberg; Corrado Romano; Alain Malafosse; Bobby P C Koeleman; Dick Lindhout; Ulrich Stephani; Stefan Schreiber; Evan E Eichler; Thomas Sander
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Nature genetics 2009;41(2):160-2.
2008: Alexandra Tészás; Rikke Steensbjerre Møller; Richard Kellermayer; Márta Czakó; Klaus W Kjaer; Reinhard Ullmann; Béla Melegh; Niels Tommerup; György Kosztolányi
A cryptic unbalanced translocation resulting in del 13q and dup 15q.
American journal of medical genetics. Part A 2008;146A(19):2570-3.
2008: S S Kaalund; Rikke Steensbjerre Møller; A Tészás; M Miranda; G Kosztolanyi; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Investigation of 4q-deletion in two unrelated patients using array CGH.
American journal of medical genetics. Part A 2008;146A(18):2431-4.
2008: E Engenheiro; Rikke Steensbjerre Møller; M Pinto; G Soares; M Nikanorova; Isabel M Carreira; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Mowat-Wilson syndrome: an underdiagnosed syndrome?
Clinical genetics 2008;73(6):579-84.
2008: Rikke Steensbjerre Møller; Lizette M Schneider; Christian P Hansen; Merete Bugge; Reinhard Ullmann; Niels Tommerup; Zeynep Tümer
Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A.
Epilepsia 2008;49(6):1091-4.
2008: Rikke Steensbjerre Møller; Sabine Kübart; Maria Hoeltzenbein; Babett Heye; Ida Vogel; Christian P Hansen; Corinna Menzel; Reinhard Ullmann; Niels Tommerup; Hans-Hilger Ropers; Zeynep Tümer; Vera Kalscheuer
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
American journal of human genetics 2008;82(5):1165-70.
2007: Rikke Steensbjerre Møller; Christian Pilebaek Hansen; G D Jackson; Reinhard Ullmann; H H Ropers; Niels Tommerup; Zeynep Tümer
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.
Clinical genetics 2007;72(6):593-8.
2007: Heather C Mefford; Séverine Clauin; andrew sharp; Rikke Steensbjerre Møller; Reinhard Ullmann; Raj Kapur; Daniel Pinkel; Gregory Cooper; ventura Mario; Hans-Hilger Ropers; Niels Tommerup; Evan E Eichler; Christine Bellanne-Chantelot
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
American journal of human genetics 2007;81(5):1057-69.
2007: Christian Pilebaek Hansen; Rikke Steensbjerre Møller; Zeynep Tümer; Niels Tommerup
[The genetic basis of epilepsy. The Danish Epilepsy Society].
Ugeskrift for laeger 2007;169(12):1102.
2002: Majken C T Wadum; Jens K Villadsen; Søren Feddersen; Rikke Steensbjerre Møller; Thomas B F Neergaard; Birthe Kragelund; Peter Højrup; Nils Færgeman; Jens Knudsen
Fluorescently labelled bovine acyl-CoA-binding protein acting as an acyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use in measuring free acyl-CoA esters and non-esterified fatty acids.
The Biochemical journal 2002;365(Pt 1):165-72.