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Heymut Omran

Research Profile

Physiology

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Cilium

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Zuzanna Bukowy-Bieryłło; Manfred Fliegauf; Maciej Geremek; Eric Haan; Niki Tomas Loges; James Martin; Lucy Morgan; Heike Olbrich; Heymut Omran; Andrzej Pogorzelski; Ewa Rutkiewicz; Jonathan Rutland; Katarzyna Voelkel; Mariana Wittmer; Ewa Ziętkiewicz; Wolfgang Berger; Michał Witt
RPGR mutations might cause reduced orientation of respiratory cilia.
Maureen Wirschell; Petra Pennekamp; Mary E Porter; Winfield S Sale; Unne Stenram; Douglas Tritschler; Claudius Werner; Raqual Bower; Birgitta Carlén; Elisabeth Horak; Gabriele Köhler; Sven Lindberg; Niki Tomas Loges; Gudrun Nürnberg; Peter Nürnberg; Heike Olbrich; Heymut Omran
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Frieder Schaumburg; Christian Schmalstieg; Angela Brentrup; Barbara Fiedler; Heymut Omran; Karsten Becker
A bumpy road to the diagnosis of a Kytococcus schroeteri shunt infection.

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All Publications

2013: Zuzanna Bukowy-Bieryłło; Manfred Fliegauf; Maciej Geremek; Eric Haan; Niki Tomas Loges; James Martin; Lucy Morgan; Heike Olbrich; Heymut Omran; Andrzej Pogorzelski; Ewa Rutkiewicz; Jonathan Rutland; Katarzyna Voelkel; Mariana Wittmer; Ewa Ziętkiewicz; Wolfgang Berger; Michał Witt
RPGR mutations might cause reduced orientation of respiratory cilia.
Pediatric pulmonology 2013;48(4):352-63.
2013: Maureen Wirschell; Petra Pennekamp; Mary E Porter; Winfield S Sale; Unne Stenram; Douglas Tritschler; Claudius Werner; Raqual Bower; Birgitta Carlén; Elisabeth Horak; Gabriele Köhler; Sven Lindberg; Niki Tomas Loges; Gudrun Nürnberg; Peter Nürnberg; Heike Olbrich; Heymut Omran
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Nature genetics 2013;45(3):262-8.
2013: Frieder Schaumburg; Christian Schmalstieg; Angela Brentrup; Barbara Fiedler; Heymut Omran; Karsten Becker
A bumpy road to the diagnosis of a Kytococcus schroeteri shunt infection.
Journal of medical microbiology 2013;62(Pt 1):165-8.
2012: Jan Halbritter; Jamie L Innis; Robert H Lyons Jr; Heymut Omran; Susan J Allen; Moumita Chaki; Katrina Diaz; Clementine Fu; Jonathan D Porath; Neveen Soliman; Constantinos J Stefanidis; Brendan Tarrier; Edgar Otto
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Journal of medical genetics 2012;49(12):756-67.
2012: Heike Olbrich; Alexandros Onoufriadis; Johanna Raidt; Richard Reinhardt; Miriam Schmidts; Josef Schroeder; Amelia Shoemark; Claudius Werner; Saeed Al Turki; Nora Fanni Banki; Tom Burgoyne; Eddie M K Chung; Matthew E Hurles; Gabriele Köhler; Niki Tomas Loges; June K Marthin; Hannah M Mitchison; Kim G Nielsen; Gudrun Nürnberg; Peter Nürnberg; Heymut Omran
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
American journal of human genetics 2012;91(4):672-84.
2012: Jennifer R Panizzi; Narendra Pathak; Richard Reinhardt; Alexander F Schier; Miriam Schmidts; Eamonn Sheridan; Claudius Werner; Dalal A Al-Mutairi; Christina Austin-Tse; Anita Becker-Heck; Rebecca D Burdine; Victoria H Castleman; Rahul Chodhari; Eddie M K Chung; Amar Gupta; Karsten Häffner; Nathan Hellman; Stephen M King; Albrecht Kramer-Zucker; Yan Liu; Niki Tomas Loges; Hannah M Mitchison; Christopher O'Callaghan; Felix Olale; Heike Olbrich; Heymut Omran; Iain A Drummond
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Nature genetics 2012;44(6):714-9.
2012: Nader Nakhleh; Kenneth Olivier; Heymut Omran; Steven L Sabol; Iman Sami; Ashok Srinivasan; Matthew Swisher; Xin Tian; Hisato Yagi; Maimoona A Zariwala; Michael Barmada; Kimberlie Burns; Bishwanath Chatterjee; Kunal K Chawla; Patricia S Connelly; Mathew P Daniels; Richard Francis; Rachel A Giese; Richard Jonas; Omar Khalifa; Michael Knowles; Nadav Kravitz; Karen Kuehl; Safina Kureshi; Linda Leatherbury; Margaret Leigh; You Li; Cecilia W Lo
High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.
Circulation 2012;125(18):2232-42.
2012: Michael Knowles; Margaret W Leigh; Niki Tomas Loges; Adriana Lori; Susan L Minnix; Heike Olbrich; Kenneth N Olivier; Heymut Omran; Margaret Rosenfeld; Scott D Sagel; Miriam Schmidts; Claudius Werner; Maimoona A Zariwala; Michael C Armstrong; Anita Becker-Heck; Kimberlie A Burns; Johnny L Carson; Stephanie D Davis; Sharon D Dell; Thomas Ferkol; Milan J Hazucha
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.
Thorax 2012;67(5):433-41.
2012: Hannah M Mitchison; Huda Mussaffi; Christopher O'Callaghan; Heike Olbrich; Heymut Omran; Miriam Schmidts; Toshiki Yagi; Maha Al Dabbagh; Philip L Beales; Hannah Blau; Eddie M K Chung; Athina Dritsoula; Judy Freshour; Rob A Hirst; Niki Tomas Loges; David R Mitchell
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.
Nature genetics 2012;44(4):381-9, S1-2.
2011: Anja E Eisenhardt; Wibke Janzarik; Andrey Korshunov; Heike Olbrich; Heymut Omran; Stefan M Pfister; Marc Remke; Michael Röring; Hendrik Witt; Ton Nu Van Anh; Huriye Cin; Tilman Brummer
Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma.
International journal of cancer. Journal international du cancer 2011;129(9):2297-303.
2011: Maimoona A Zariwala; Heymut Omran; Thomas Ferkol
The emerging genetics of primary ciliary dyskinesia.
Proceedings of the American Thoracic Society 2011;8(5):430-3.
2011: Sabrina Röseler; Kirstin Sandrock; Ingrid Bartsch; Anja Busse; Niki T Loges; Heymut Omran; Barbara Zieger
Lethal phenotype of mice carrying a Sept11 null mutation.
Biological chemistry 2011;392(8-9):779-81.
2011: Fabian Schmid; Gudrun Nürnberg; Peter Nürnberg; Heymut Omran; Daniel Barthelmes; Wolfgang Berger; Manfred Fliegauf; Harald Gaspar; Esther Glaus; John Neidhardt
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
Human mutation 2011;32(7):815-24.
2011: Huriye Cin; Claus Meyer; Ricarda Herr; Wibke G Janzarik; Sally Lambert; David T W Jones; Karine Jacob; Axel Benner; Hendrik Witt; Marc Remke; Sebastian Bender; Fabian Falkenstein; Ton Nu Van Anh; Heike Olbrich; Andreas von Deimling; Arnulf Pekrun; Andreas E Kulozik; Astrid Gnekow; Wolfram Scheurlen; Olaf Witt; Heymut Omran; Nada Jabado; V Peter Collins; Tilman Brummer; Rolf Marschalek; Peter Lichter; Andrey Korshunov; Stefan Pfister
Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma.
Acta neuropathologica 2011;121(6):763-74.
2011: Anke Sommer; Ernst Christensen; Susanne Schwenger; Ralf Seul; Dorothea Haas; Heike Olbrich; Heymut Omran; Jörn Oliver Sass
The molecular basis of aminoacylase 1 deficiency.
Biochimica et biophysica acta 2011;1812(6):685-90.
2011: Genevieve Schindler; David Capper; Jochen Meyer; Wibke Janzarik; Heymut Omran; Christel Herold-Mende; Kirsten Schmieder; Pieter Wesseling; Christian Mawrin; Martin Hasselblatt; David N Louis; Andrey Korshunov; Stefan Pfister; Christian Hartmann; Werner Paulus; Guido Reifenberger; Andreas von Deimling
Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma.
Acta neuropathologica 2011;121(3):397-405.
2011: Jonathan S Berg; James P Evans; Margaret W Leigh; Heymut Omran; Chris Bizon; Ketan Mane; Michael Knowles; Karen E Weck; Maimoona A Zariwala
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(3):218-29.
2011: J Ulrich Sommer; Kerstin Schäfer; Heymut Omran; Heike Olbrich; Julia Wallmeier; Andreas Blum; Karl Hörmann; Boris A Stuck
ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2011;268(3):383-8.
2011: Anita Becker-Heck; Irene E Zohn; Noriko Okabe; Andrew Pollock; Kari Baker Lenhart; Jessica Sullivan-Brown; Jason McSheene; Niki Tomas Loges; Heike Olbrich; Karsten Haeffner; Manfred Fliegauf; Judith Horvath; Richard Reinhardt; Kim G Nielsen; June K Marthin; György Baktai; Kathryn V Anderson; Robert Geisler; Lee Niswander; Heymut Omran; Rebecca D Burdine
The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.
Nature genetics 2011;43(1):79-84.
2010: Heymut Omran
NPHP proteins: gatekeepers of the ciliary compartment.
The Journal of cell biology 2010;190(5):715-7.
2010: Marlies J Valstar; Aida M Bertoli Avella; Marja W Wessels; George J G Ruijter; Bianca de Graaf; Renske Olmer; Peter Elfferich; Sanne Neijs; Roxana Kariminejad; Fatih Suheyl Ezgü; Aysegul Tokatli; Barbara Czartoryska; Ad N Bosschaart; Feikje van den Bos-Terpstra; Hugues Puissant; Friederike Bürger; Heymut Omran; D Eckert; Mirella Filocamo; Emil Simeonov; Patrick J Willems; Ron A Wevers; Martinus F Niermeijer; D J J Halley; B J H M Poorthuis; Otto P van Diggelen
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Human mutation 2010;31(5):E1348-60.
2010: Kerstin Jurk; Ansgar S Schulz; Beate Prof. Dr. Kehrel; Daniel Räpple; Harald Schulze; Dieter Möbest; Wilhelm W Friedrich; Heymut Omran; Erika Deak; Reinhard Henschler; Jürgen S Scheele; Barbara Zieger
Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.
Thrombosis and haemostasis 2010;103(5):1053-64.
2009: Niki Tomas Loges; Heike Olbrich; Anita Becker-Heck; Karsten Häffner; Angelina Heer; Christina Reinhard; Miriam Schmidts; Andreas Kispert; Maimoona A Zariwala; Margaret W Leigh; Michael Knowles; Hanswalter Zentgraf; Horst Seithe; Gudrun Nürnberg; Peter Nürnberg; Richard Reinhardt; Heymut Omran
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
American journal of human genetics 2009;85(6):883-9.
2009: Torsten Stölting; Heymut Omran; Anne Erlekotte; Jonas Denecke; Janine Reunert; Thorsten Marquardt
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.
Molecular genetics and metabolism 2009;98(3):305-9.
2009: Larissa Osten; Marion Kubitza; Anna Rachel Gallagher; Jürgen Kastner; Heike Olbrich; Uwe de Vries; Frieder Kees; Brigitte Lelongt; Stefan Somlo; Heymut Omran; Ralph Witzgall
Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease.
Histochemistry and cell biology 2009;132(2):199-210.
2009: Richard J B Francis; Bishwanath Chatterjee; Niki T Loges; Hanswalter Zentgraf; Heymut Omran; Cecilia W Lo
Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway.
American journal of physiology. Lung cellular and molecular physiology 2009;296(6):L1067-75.
2008: Heymut Omran; Daisuke Kobayashi; Heike Olbrich; Tatsuya Tsukahara; Niki Tomas Loges; Haruo Hagiwara; Qi Zhang; Gerard Leblond; Eileen O'Toole; Chikako Hara; Hideaki Mizuno; Hiroyuki Kawano; Manfred Fliegauf; Toshiki Yagi; Sumito Koshida; Atsushi Miyawaki; Hanswalter Zentgraf; Horst Seithe; Richard Reinhardt; Yoshinori Watanabe; Ritsu Kamiya; David R Mitchell; Hiroyuki Takeda
Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.
Nature 2008;456(7222):611-6.
2008: Jörn Oliver Sass; L Sztriha; M Tabache; M Topçu; E Werlé; N Al-Sannaa; S A Alshahwan; M Bataillard; L Cimbalistiene; Susan Cure; C Grolik; Florence Jobard; V Kemmerich; A Mahfoud; Heymut Omran; Judith Fischer
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
Journal of inherited metabolic disease 2008;31 Suppl 2():S275-9.
2008: D J Morris-Rosendahl; J Najm; A M A Lachmeijer; L Sztriha; M Martins; A Kuechler; V Haug; C Zeschnigk; P Martin; M Santos; C Vasconcelos; Heymut Omran; U Kraus; M S Van der Knaap; G Schuierer; K Kutsche; Gökhan Uyanik
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Clinical genetics 2008;74(5):425-33.
2008: Niki Tomas Loges; Heike Olbrich; Lale Fenske; Huda Mussaffi; Judit Horvath; Manfred Fliegauf; Heiner Kuhl; György Baktai; Erzsebet Peterffy; Rahul Chodhari; Eddie M K Chung; Andrew Rutman; Christopher O'Callaghan; Hannah Blau; Laszlo Tiszlavicz; Katarzyna Voelkel; Michal Witt; Ewa Zietkiewicz; Juergen Neesen; Richard Reinhardt; Hannah M Mitchison; Heymut Omran
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
American journal of human genetics 2008;83(5):547-58.
2008: Marja W Wessels; Avraham Avital; Mike Failly; Analia Munoz; Heymut Omran; Jean-Louis Blouin; Patrick J Willems
Candidate gene analysis in three families with acilia syndrome.
American journal of medical genetics. Part A 2008;146A(13):1765-7.
2008: Stefan Pfister; Wibke G Janzarik; Marc Remke; Aurélie Ernst; Wiebke Werft; N Becker; Grischa Toedt; Andrea Wittmann; Christian Kratz; Heike Olbrich; Rezvan Ahmadi; Barbara Thieme; Stefan Joos; Bernhard Radlwimmer; Andreas E Kulozik; Torsten Pietsch; Christel Herold-Mende; Astrid Gnekow; Guido Reifenberger; Andrey Korshunov; Wolfram Scheurlen; Heymut Omran; Peter Lichter
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas.
The Journal of clinical investigation 2008;118(5):1739-49.
2008: Carsten Bergmann; Manfred Fliegauf; Nadina Ortiz Brüchle; Valeska Frank; Heike Olbrich; Jan Kirschner; Bernhard Schermer; Ingolf Schmedding; Andreas Kispert; Bettina Kränzlin; Gudrun Nürnberg; Christian Becker; Tiemo Grimm; Gundula Girschick; Sally A Lynch; Peter Kelehan; Jan Senderek; Thomas J Neuhaus; Thomas Stallmach; Hanswalter Zentgraf; Peter Nürnberg; Norbert Gretz; Cecilia Lo; Soeren Lienkamp; Tobias Schäfer; Gerd Walz; Thomas Benzing; Klaus Zerres; Heymut Omran
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
American journal of human genetics 2008;82(4):959-70.
2008: Georg C Schwabe; Katrin Hoffmann; Niki Tomas Loges; Daniel Birker; Colette Rossier; Margherita M de Santi; Heike Olbrich; Manfred Fliegauf; Mike Failly; Uta Liebers; Mirella Collura; Gerhard Gaedicke; Stefan Mundlos; Ulrich Wahn; Jean-Louis Blouin; Bodo Niggemann; Heymut Omran; Stylianos E Antonarakis; Lucia Bartoloni
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Human mutation 2008;29(2):289-98.
2008: Udo F H Engelke; Jörn Oliver Sass; Rudy Van Coster; Erik Gerlo; Heike Olbrich; Stefan Krywawych; Jacqui Calvin; Claire Hart; Heymut Omran; Ron A Wevers
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
NMR in biomedicine 2008;21(2):138-47.
2007: Serena Y Tan; Julie Rosenthal; Xiao-Qing Zhao; Richard J Francis; Bishwanath Chatterjee; Steven L Sabol; Kaari L Linask; Luciann Bracero; Patricia S Connelly; Mathew P Daniels; Qing Yu; Heymut Omran; Linda Leatherbury; Cecilia W Lo
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.
The Journal of clinical investigation 2007;117(12):3742-52.
2007: Manfred Fliegauf; Thomas Benzing; Heymut Omran
When cilia go bad: cilia defects and ciliopathies.
Nature reviews. Molecular cell biology 2007;8(11):880-93.
2007: Juliana Helou; Edgar Otto; Massimo Attanasio; Susan J Allen; Melissa A Parisi; Ian A Glass; Boris Utsch; Seema Hashmi; Elisa Fazzi; Heymut Omran; John F O'Toole; John A Sayer; Friedhelm Hildebrandt
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Journal of medical genetics 2007;44(10):657-63.
2007: Max Christoph Liebau; Andreas Gal; andrea superti-furga; Heymut Omran; Martin Pohl
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Pediatric nephrology (Berlin, Germany) 2007;22(7):1058-61.
2007: Jorn Oliver Sass; Heike Olbrich; V Mohr; C Hart; Berit Woldseth; S Krywawych; B Bjurulf; P K Lakhani; R M Buchdahl; Heymut Omran
Neurological findings in aminoacylase 1 deficiency.
Neurology 2007;68(24):2151-3.
2007: Marcus P Kennedy; Heymut Omran; Margaret W Leigh; Sharon Dell; Lucy Morgan; Paul L Molina; Blair Robinson; Susan L Minnix; Heike Olbrich; Thomas Severin; Peter Ahrens; Lars Lange; Hilda N Morillas; Peadar G Noone; Maimoona A Zariwala; Michael Knowles
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia.
Circulation 2007;115(22):2814-21.
2007: Christian von Schnakenburg; Manfred Fliegauf; Heymut Omran
Nephrocystin and ciliary defects not only in the kidney?
Pediatric nephrology (Berlin, Germany) 2007;22(6):765-9.
2007: Katrin Driller; Axel Pagenstecher; Markus Uhl; Heymut Omran; Ansgar Berlis; Albert Gründer; Albrecht Sippel
Nuclear factor I X deficiency causes brain malformation and severe skeletal defects.
Molecular and cellular biology 2007;27(10):3855-3867.
2007: W G Janzarik; Christian P Kratz; Niki Tomas Loges; Heike Olbrich; Christine Klein; T Schäfer; Wolfram Scheurlen; W Roggendorf; C Weiller; C Niemeyer; Rudolf Korinthenberg; Stefan Pfister; Heymut Omran
Further evidence for a somatic KRAS mutation in a pilocytic astrocytoma.
Neuropediatrics 2007;38(2):61-3.
2007: Maimoona A Zariwala; Michael Knowles; Heymut Omran
Genetic defects in ciliary structure and function.
Annual review of physiology 2007;69():423-50.
2006: Bernhard Schermer; Cristina Ghenoiu; Malte Bartram; Roman Ulrich Müller; Fruzsina Kotsis; Martin Höhne; Wolfgang Kühn; Manuela Rapka; Roland Nitschke; Hanswalter Zentgraf; Manfred Fliegauf; Heymut Omran; Gerd Walz; Thomas Benzing
The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth.
The Journal of cell biology 2006;175(4):547-54.
2006: Maimoona A Zariwala; Margaret W Leigh; Franck Ceppa; Marcus P Kennedy; Peadar G Noone; Johnny L Carson; Milan J Hazucha; Adriana Lori; Judit Horvath; Heike Olbrich; Niki Tomas Loges; Anne-Marie Bridoux; Gaëlle Pennarun; Bénédicte Duriez; Estelle Escudier; Hannah M Mitchison; Rahul Chodhari; Eddie M K Chung; Lucy C Morgan; Robbert U de Iongh; Jonathan Rutland; Ugo Pradal; Heymut Omran; Serge Amselem; Michael Knowles
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
American journal of respiratory and critical care medicine 2006;174(8):858-66.
2006: Manfred Fliegauf; Judit Horvath; Christian von Schnakenburg; Heike Olbrich; Dominik Müller; Julia Thumfart; Bernhard Schermer; Gregory Pazour; Hartmut P H Neumann; Hanswalter Zentgraf; Thomas Benzing; Heymut Omran
Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia.
Journal of the American Society of Nephrology : JASN 2006;17(9):2424-33.
2006: Bartlomiej Budny; Wei Chen; Heymut Omran; Manfred Fliegauf; Andreas Tzschach; Marzena Wisniewska; Lars Riff Jensen; Martine Raynaud; Sarah A Shoichet; Magda Badura; Steffen Lenzner; Anna Latos-Bielenska; Hans-Hilger Ropers
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
Human genetics 2006;120(2):171-8.
2006: Vassilios I Vougioukas; Sven Gläsker; Ulrich Hubbe; Ansgar Berlis; Heymut Omran; Hartmut P H Neumann; Vera van Velthoven
Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2006;22(9):1149-53.
2006: Nada Hornef; Heike Olbrich; Judit Horvath; Maimoona A Zariwala; Manfred Fliegauf; Niki Tomas Loges; Johannes H Wildhaber; Peadar G Noone; Marcus Kennedy; Stylianos E Antonarakis; Jean-Louis Blouin; Lucia Bartoloni; Thomas Nüsslein; Peter Ahrens; Matthias Griese; Heiner Kuhl; Ralf Sudbrak; Michael Knowles; Richard Reinhardt; Heymut Omran
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
American journal of respiratory and critical care medicine 2006;174(2):120-6.
2006: Manfred Fliegauf; Heymut Omran
Novel tools to unravel molecular mechanisms in cilia-related disorders.
Trends in genetics : TIG 2006;22(5):241-5.
2006: Heike Olbrich; Judit Horváth; Andrea Fekete; Niki Tomas Loges; Karin Storm van's Gravesande; Andreas Blum; Karl Hörmann; Heymut Omran
Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia.
Pediatric research 2006;59(3):418-22.
2006: Philippa B Mills; Eduard A Struys; Cornelis Jakobs; Barbara Plecko; Peter Baxter; Matthias Baumgartner; Michèl A A P Willemsen; Heymut Omran; Uta Tacke; Birgit Uhlenberg; Bernhard Weschke; Peter T Clayton
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nature medicine 2006;12(3):307-9.
2006: Jorn Oliver Sass; Verena Mohr; Heike Olbrich; Udo Engelke; Judit Horvath; Manfred Fliegauf; Niki Tomas Loges; Susanne Schweitzer-Krantz; Ralf Moebus; Polly Weiler; Andreas Kispert; andrea superti-furga; Ron A Wevers; Heymut Omran
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
American journal of human genetics 2006;78(3):401-9.
2005: Bernhard Schermer; Katja Höpker; Heymut Omran; Cristina Ghenoiu; Manfred Fliegauf; Andrea Fekete; Judit Horvath; Michael Köttgen; Matthias Hackl; Stefan Zschiedrich; Tobias B Huber; Albrecht Kramer-Zucker; Hanswalter Zentgraf; Andree Blaukat; Gerd Walz; Thomas Benzing
Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.
The EMBO journal 2005;24(24):4415-24.
2005: Vassilios I Vougioukas; Heymut Omran; Sven Gläsker; Vera van Velthoven
Far lateral supracerebellar infratentorial approach for the treatment of upper brainstem gliomas: clinical experience with pediatric patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2005;21(12):1037-41.
2005: U Tacke; Heike Olbrich; Jorn Oliver Sass; Andrea Fekete; Judit Horvath; S Ziyeh; W J Kleijer; M-O Rolland; S Fisher; S Payne; Euthymia Vargiami; Dimitrios I Zafeiriou; Heymut Omran
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
Neuropediatrics 2005;36(4):252-5.
2005: Uwe-Peter Ketelsen; Beate Brand-Saberi; B Uhlenberg; M Wagner; H-G Laberke; Heymut Omran
Congenital myopathy with arrest of myogenesis prior to formation of myotubes.
Neuropediatrics 2005;36(4):246-51.
2005: Judit Horváth; Manfred Fliegauf; Heike Olbrich; Andreas Kispert; Stephen M King; Hannah M Mitchison; Maimoona A Zariwala; Michael Knowles; Ralf Sudbrak; György Fekete; Juergen Neesen; Richard Reinhardt; Heymut Omran
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.
American journal of respiratory cell and molecular biology 2005;33(1):41-7.
2005: Manfred Fliegauf; Heike Olbrich; Judit Horvath; Johannes H Wildhaber; Maimoona A Zariwala; Marcus Kennedy; Michael Knowles; Heymut Omran
Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.
American journal of respiratory and critical care medicine 2005;171(12):1343-9.
2005: Andreas Zankl; Luitgard Neumann; Jaakko Ignatius; Peter Nikkels; C T R M Schrander-Stumpel; Geert R Mortier; Heymut Omran; Michael Wright; Katja Hilbert; Luisa Bonafé; Jürgen Spranger; Bernhard Zabel; andrea superti-furga
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
American journal of medical genetics. Part A 2005;133A(1):61-7.
2005: Christian Kubisch; Uwe-Peter Ketelsen; Ingrid Goebel; Heymut Omran
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
Annals of neurology 2005;57(2):303-4.
2005: Karin Storm van's Gravesande; Heymut Omran
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics.
Annals of medicine 2005;37(6):439-49.
2004: Inés Ibañez-Tallon; Axel Pagenstecher; Manfred Fliegauf; Heike Olbrich; Andreas Kispert; Uwe-Peter Ketelsen; Alison North; Nathaniel Heintz; Heymut Omran
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.
Human molecular genetics 2004;13(18):2133-41.
2003: Heike Olbrich; Manfred Fliegauf; Julia Hoefele; Andreas Kispert; Edgar Otto; Andreas Volz; Matthias T F Wolf; Gürsel Sasmaz; Ute Trauer; Richard Reinhardt; Ralf Sudbrak; Corinne Antignac; Norbert Gretz; Gerd Walz; Bernhard Schermer; Thomas Benzing; Friedhelm Hildebrandt; Heymut Omran
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Nature genetics 2003;34(4):455-9.
2003: J Horváth; Uwe-Peter Ketelsen; A Geibel-Zehender; N Boehm; Heike Olbrich; Rudolf Korinthenberg; Heymut Omran
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease.
Neuropediatrics 2003;34(5):270-3.
2003: Andreas Kispert; Marianne Petry; Heike Olbrich; Andreas Volz; Uwe-Peter Ketelsen; Judit Horvath; Rachid Melkaoui; Heymut Omran; Maimoona A Zariwala; Peadar G Noone; Michael Knowles
Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations.
Thorax 2003;58(6):552-4.
2003: Manfred Fliegauf; Christian Fröhlich; Judit Horvath; Heike Olbrich; Friedhelm Hildebrandt; Heymut Omran
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease.
Pediatric nephrology (Berlin, Germany) 2003;18(6):498-505.
2003: Inés Ibañez-Tallon; Nathaniel Heintz; Heymut Omran
To beat or not to beat: roles of cilia in development and disease.
Human molecular genetics 2003;12 Spec No 1():R27-35.
2003: Sabine Rudnik-Schöneborn; H H Goebel; W Schlote; S Molaian; Heymut Omran; Uwe-Peter Ketelsen; Rudolf Korinthenberg; D Wenzel; H Lauffer; Martina Kreiss-Nachtsheim; B Wirth; Klaus Zerres
Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy.
Neurology 2003;60(6):983-7.
2003: Loubna El Zein; Heymut Omran; Patrice Bouvagnet
Lateralization defects and ciliary dyskinesia: lessons from algae.
Trends in genetics : TIG 2003;19(3):162-7.
2002: Maria J Schuermann; Edgar Otto; Achim Becker; Kathrin Saar; Franz Rüschendorf; Bettine C P Polak; Sirpa Ala-Mello; Julia Hoefele; Alexander Wiedensohler; Maria Haller; Heymut Omran; Peter Nürnberg; Friedhelm Hildebrandt
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
American journal of human genetics 2002;70(5):1240-6.
2002: Heike Olbrich; Karsten Häffner; Andreas Kispert; Alexander Völkel; Andreas Volz; Gürsel Sasmaz; Richard Reinhardt; Steffen Hennig; Hans Lehrach; Nikolaus Konietzko; Maimoona A Zariwala; Peadar G Noone; Michael Knowles; Hannah M Mitchison; Maggie Meeks; Eddie M K Chung; Friedhelm Hildebrandt; Ralf Sudbrak; Heymut Omran
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Nature genetics 2002;30(2):143-4.
2002: Juergen Neesen; J-D Drenckhahn; S Tiede; Peter Burfeind; Michal Grzmil; J Konietzko; Christa Dixkens; J Kreutzberger; Franco Laccone; Heymut Omran
Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia.
Cytogenetic and genome research 2002;98(1):38-44.
2002: Andreas Volz; Rachid Melkaoui; Friedhelm Hildebrandt; Heymut Omran
Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3.
Cytogenetic and genome research 2002;97(3-4):163-6.
2002: Heymut Omran; Gürsel Sasmaz; Karsten Häffner; Andreas Volz; Heike Olbrich; Rachid Melkaoui; Edgar Otto; Thomas F Wienker; Rudolf Korinthenberg; Matthias Brandis; Corinne Antignac; Friedhelm Hildebrandt
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.
Journal of the American Society of Nephrology : JASN 2002;13(1):75-9.
2001: Ralf Birkenhäger; Edgar Otto; M J Schürmann; Martin Vollmer; Eva-Maria Ruf; I Maier-Lutz; Frank Beekmann; Andrea Fekete; Heymut Omran; D Feldmann; D V Milford; Nikola Jeck; Martin Konrad; D Landau; Nine V A M Knoers; Corinne Antignac; Ralf Sudbrak; Andreas Kispert; Friedhelm Hildebrandt
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Nature genetics 2001;29(3):310-4.
2001: Heymut Omran; Karsten Häffner; S Burth; Sirpa Ala-Mello; Corinne Antignac; Friedhelm Hildebrandt
Evidence for further genetic heterogeneity in nephronophthisis.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(4):755-8.
2001: Friedhelm Hildebrandt; Cornelia Rensing; R Betz; U Sommer; S Birnbaum; Anita Imm; Heymut Omran; Michael Leipoldt; Edgar Otto
Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
Kidney international 2001;59(2):434-45.
2001: Heymut Omran; Karsten Häffner; S Burth; C Fernandez; B Fargier; A Villaquiran; Hans Gerd Nothwang; S Schnittger; Hans Lehrach; David D Woo; Matthias Brandis; Ralf Sudbrak; Friedhelm Hildebrandt
Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.
Journal of the American Society of Nephrology : JASN 2001;12(1):107-13.
2000: Heymut Omran; Karsten Häffner; A Völkel; Joachim Kuehr; U P Ketelsen; U H Ross; Nikolaus Konietzko; Thomas F Wienker; Matthias Brandis; Friedhelm Hildebrandt
Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.
American journal of respiratory cell and molecular biology 2000;23(5):696-702.
2000: Heymut Omran; C Fernandez; M Jung; Karsten Häffner; B Fargier; A Villaquiran; R Waldherr; N Gretz; Matthias Brandis; F Rüschendorf; A Reis; Friedhelm Hildebrandt
Identification of a new gene locus for adolescent nephronophthisis, on chromosome 3q22 in a large Venezuelan pedigree.
American journal of human genetics 2000;66(1):118-27.
1999: Heymut Omran; Karsten Häffner; M Vollmer; J Pigulla; G Wagner; Gianluca Caridi; Friedhelm Hildebrandt
Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1999;14(10):2328-31.
1998: Heymut Omran; Uwe-Peter Ketelsen; Florian Heinen; M Sauer; Sabine Rudnik-Schöneborn; B Wirth; Klaus Zerres; W Kratzer; Rudolf Korinthenberg
Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy.
Journal of child neurology 1998;13(7):327-31.
1998: Martin Vollmer; M Koehrer; R Topaloglu; Brigitte Strahm; Heymut Omran; Friedhelm Hildebrandt
Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome.
Pediatric nephrology (Berlin, Germany) 1998;12(1):69-71.
1997: Heymut Omran; Friedhelm Hildebrandt; R Korinthenberg; M Brandis
Probable Opitz trigonocephaly C syndrome with medulloblastoma.
American journal of medical genetics 1997;69(4):395-9.
1993: Friedhelm Hildebrandt; I Singh-Sawhney; B Schnieders; L Centofante; Heymut Omran; A Pohlmann; C Schmaltz; H Wedekind; C Schubotz; Corinne Antignac
Mapping of a gene for familial juvenile nephronophthisis: refining the map and defining flanking markers on chromosome 2. APN Study Group.
American journal of human genetics 1993;53(6):1256-61.
1993: Friedhelm Hildebrandt; A Pohlmann; Heymut Omran
LODVIEW: a computer program for the graphical evaluation of lod score results in exclusion mapping of human disease genes.
Computers and biomedical research, an international journal 1993;26(6):592-9.