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Han Brunner

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Viktor Stránecký; Samia A Temtamy; Maha S Zaki; Jiří Zeman; Enrique Zudaire; Pavel Martásek; Lenka Nosková; Lenka Piherová; Anna Přistoupilová; Manouri P Senanayake; Jana Sovová; Brad St Croix; Hanan H Afifi; Veronika Barešová; Alice Baxová; Han G Brunner; Amit Chaudhary; Deepthi de Silva; Sameh Farrag; Hana Hartmannová; Jayne Y Hehir-Kwa; Kateřina Hodaňová; Alexander Hoischen; Helena Hulková; Stanislav Kmoch
Mutations in ANTXR1 Cause GAPO Syndrome.
Stephen R F Twigg; Marijke E P van den Elzen; Steven A Wall; Roseli M Zechi-Ceide; Christian Babbs; Han G Brunner; Eleni Giannoulatou; Anne Goriely; Jeannette A M Hoogeboom; Samantha J L Knight; Lorne Lonie; Irene M J Mathijssen; Simon J McGowan; Barbara R Pober; Jiannis Ragoussis; M Rita Passos-Bueno; Elham Sadighi Akha; Stephen Taylor; Helga V Toriello; Andrew O M Wilkie
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Anneke T Vulto-van Silfhout; Michèl A A P Willemsen; Helger G Yntema; Thomas G Boyer; Han G Brunner; Bert B A de Vries; Fangjian Gao; Christian Gilissen; Ben C J Hamel; Cornelis L Harteveld; Alexander Hoischen; Tjitske Kleefstra; Martina Ruiterkamp-Versteeg; Hans van Bokhoven; Bregje W M van Bon; Anthonie J van Essen; Marloes van Zwam; Arjan P M de Brouwer
Mutations in MED12 cause X-linked Ohdo syndrome.

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2013: Viktor Stránecký; Samia A Temtamy; Maha S Zaki; Jiří Zeman; Enrique Zudaire; Pavel Martásek; Lenka Nosková; Lenka Piherová; Anna Přistoupilová; Manouri P Senanayake; Jana Sovová; Brad St Croix; Hanan H Afifi; Veronika Barešová; Alice Baxová; Han G Brunner; Amit Chaudhary; Deepthi de Silva; Sameh Farrag; Hana Hartmannová; Jayne Y Hehir-Kwa; Kateřina Hodaňová; Alexander Hoischen; Helena Hulková; Stanislav Kmoch
Mutations in ANTXR1 Cause GAPO Syndrome.
American journal of human genetics 2013;92(5):792-9.
2013: Stephen R F Twigg; Marijke E P van den Elzen; Steven A Wall; Roseli M Zechi-Ceide; Christian Babbs; Han G Brunner; Eleni Giannoulatou; Anne Goriely; Jeannette A M Hoogeboom; Samantha J L Knight; Lorne Lonie; Irene M J Mathijssen; Simon J McGowan; Barbara R Pober; Jiannis Ragoussis; M Rita Passos-Bueno; Elham Sadighi Akha; Stephen Taylor; Helga V Toriello; Andrew O M Wilkie
Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Human molecular genetics 2013;22(8):1654-62.
2013: Anneke T Vulto-van Silfhout; Michèl A A P Willemsen; Helger G Yntema; Thomas G Boyer; Han G Brunner; Bert B A de Vries; Fangjian Gao; Christian Gilissen; Ben C J Hamel; Cornelis L Harteveld; Alexander Hoischen; Tjitske Kleefstra; Martina Ruiterkamp-Versteeg; Hans van Bokhoven; Bregje W M van Bon; Anthonie J van Essen; Marloes van Zwam; Arjan P M de Brouwer
Mutations in MED12 cause X-linked Ohdo syndrome.
American journal of human genetics 2013;92(3):401-6.
2013: Tom Stiff; Mark O'Driscoll; Emily Outwin; Meryem Alagoz; Diana Alcantara; Ernie M H F Bongers; Han G Brunner; Penny A Jeggo
Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.
PLoS genetics 2013;9(3):e1003360.
2012: Janneke H M Schuurs-Hoeijmakers; Marloes Steehouwer; Mariëlle E M Swinkels; Hans van Bokhoven; Joris Veltman; Lisenka E L M Vissers; Michèl A Willemsen; Arjan P M de Brouwer; Bert B A de Vries; koenraad devriendt; Christian Gilissen; Maureen Holvoet; Nicholas Katsanis; Edwin C Oh; Han G Brunner
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
American journal of human genetics 2012;91(6):1122-7.
2012: Joep de Ligt; Bert B A de Vries; Petra de Vries; Marisol del Rosario; Christian Gilissen; Alexander Hoischen; Tjitske Kleefstra; David A Koolen; Thessa Kroes; Hans Scheffer; Bregje W M van Bon; Joris Veltman; Anneke T Vulto-van Silfhout; Marjolein H Willemsen; Helger G Yntema; Han G Brunner; Lisenka E L M Vissers
Diagnostic exome sequencing in persons with severe intellectual disability.
The New England journal of medicine 2012;367(20):1921-9.
2012: Han G Brunner
The variability of genetic disease.
The New England journal of medicine 2012;367(14):1350-2.
2012: Joris A Veltman; Han G Brunner
De novo mutations in human genetic disease.
Nature reviews. Genetics 2012;13(8):565-75.
2012: Mark E Lindsay; Geert R Mortier; Loretha Myers; Gretchen Oswald; Dorien Schepers; Janneke Timmermans; Jennifer E Van Eyk; Lut Van Laer; Margaret H Yang; Britt-Marie Anderlid; Djahita Bjeda; Nikhita Ajit Bolar; Ernie M H F Bongers; Alan C Braverman; Han G Brunner; Peter H Byers; Natalie Canham; Yichun Chen; Harry C Dietz; Jefferson J Doyle; Abdallah F Elias; Justyna Fert-Bober; elliot fishman; Elena Gallo; Marlies J E Kempers; HOWARD LEVY; Bart Loeys
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Nature genetics 2012;44(8):922-7.
2012: Tjitske Kleefstra; Tom S Koemans; Jamie M Kramer; Kornelia Neveling; Willy M Nillesen; Trine Prescott; Annette Schenck; Han G Brunner; Robin D Clark; Arjan P M de Brouwer; koenraad devriendt; Michaela Fenckova; Christian Gilissen; Nael Nadif Kasri; Willem M R van den Akker; Jeroen van Reeuwijk; Joris Veltman; Lisenka E L M Vissers; Marjolein H Willemsen; Willemijn Wissink-Lindhout; Huiqing Zhou; Hans van Bokhoven
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
American journal of human genetics 2012;91(1):73-82.
2012: Bregje W M van Bon; Joris Veltman; Nienke Wieskamp; Han G Brunner; Bert B A de Vries; Petra de Vries; Hartmut Engels; Metin Eser; Christian Gilissen; Dorothy K Grange; Raoul C M Hennekam; Bertrand Isidor; Hulya Kayserili; Martine Le Merrer; Eva Morava; John R Ostergaard; Heiko Reutter; Stephen P Robertson; Marloes Steehouwer; Konstantinos Tsiakas; Alexander Hoischen
Cantú syndrome is caused by mutations in ABCC9.
American journal of human genetics 2012;90(6):1094-101.
2012: David A Koolen; Jamie M Kramer; Valérie Malan; Sarah Martens; Heather L Moore-Barton; Kornelia Neveling; Willy M Nillesen; Hans Scheffer; Annette Schenck; Annick Toutain; Anne Chun-Hui Tsai; Joris Veltman; Eugene T P Verwiel; Lisenka E L M Vissers; Helger G Yntema; Jeanne Amiel; Ernie M H F Bongers; Han G Brunner; Sau Wai Cheung; Arjan P M de Brouwer; Petra de Vries; Frances V Elmslie; Ton Feuth; Christian Gilissen; Bert B A de Vries
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nature genetics 2012;44(6):639-41.
2012: K M Landsbergen; M Ligtenberg; Fokko M Nagengast; J B Prins; Peter van Duijvendijk; J H van Krieken; Han G Brunner; Nicoline Hoogerbrugge
Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist's initiative.
Familial cancer 2012;11(2):259-67.
2012: Christian Gilissen; Alexander Hoischen; Han G Brunner; Joris A Veltman
Disease gene identification strategies for exome sequencing.
European journal of human genetics : EJHG 2012;20(5):490-7.
2012: Marjolein H Willemsen; Han G Brunner; Joep de Ligt; Bert B A de Vries; Ben C J Hamel; Thessa Kroes; Dorien Lugtenberg; Jeroen Schoots; Hans van Bokhoven; Bregje W M van Bon; Joris Veltman; Lisenka E L M Vissers; Michèl A A P Willemsen; Tjitske Kleefstra
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Journal of medical genetics 2012;49(3):179-83.
2012: Miles D Thompson; Helger G Yntema; Danielle M Andrade; Han G Brunner; Peter Krawitz; Peihua Lu; Carlo Marcelis; Marjan M Nezarati; John A Phillips; Peter N Robinson; Tony Roscioli; Frances J Sharom; Irene Stolte-Dijkstra; Elizabeth Sweeney; David E C Cole
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
American journal of medical genetics. Part A 2012;158A(3):553-8.
2012: Michael A Simpson; Lisenka E L M Vissers; Susan M White; Wesley J Woollard; Ernie M H F Bongers; Han G Brunner; Ruthy Cohen-Snuijf; Dimitra Dafou; Ronny Derks; Charu Deshpande; Gabriele Gillessen-Kaesbach; Lies Hoefsloot; Susan E Holder; Sarina G Kant; Willie Reardon; Richard C Trembath
De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.
American journal of human genetics 2012;90(2):290-4.
2012: Aisha S Sie; Liesbeth Spruijt; Wendy A G van Zelst-Stams; Han G Brunner; Marjolijn J Ligtenberg; Arjen R Mensenkamp; Judith B Prins; Nicoline Hoogerbrugge
DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct.
BMC women's health 2012;12():12.
2011: Lisenka E L M Vissers; Giuseppina Timpani; Sheila Unger; Joris Veltman; Domenico Barbuti; Luisa Bonafé; Han G Brunner; Belinda Campos-Xavier; Tae-Joon Cho; Carlo Dionisi Vici; Ahmet Dursun; Virginia Fano; Ok Hwa Kim; Sun Hee Lee; Diego Martinelli; Gen Nishimura; Jörn Oliver Sass; Andrea Superti-Furga
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
American journal of medical genetics. Part A 2011;155A(11):2609-16.
2011: Janita Bralten; Han G Brunner; Guillén Fernández; Barbara Franke; Angelien Heister; Alejandro Arias-Vásquez; Mark Rijpkema
CR1 genotype is associated with entorhinal cortex volume in young healthy adults.
Neurobiology of aging 2011;32(11):2106.e7-11.
2011: Janita Bralten; Han G Brunner; Guillén Fernández; Remco Makkinje; Mark Rijpkema; Joris A Veltman; Alejandro Arias-Vásquez; Barbara Franke
Association of the Alzheimer's gene SORL1 with hippocampal volume in young, healthy adults.
The American journal of psychiatry 2011;168(10):1083-9.
2011: Alexander Hoischen; Irene Janssen; Susanne Kjaergaard; Ruth McGowan; Ruth Newbury-Ecob; Maarit Peippo; Anita Rauch; Benjamín Rodríguez-Santiago; Sarah F Smithson; Bregje W M van Bon; Bart van Lier; Joris Veltman; Lisenka E L M Vissers; Dagmar Wieczorek; Deborah Bartholdi; Han G Brunner; Jan M Cobben; Petra de Vries; Christian Gilissen; Gabriele Gillessen-Kaesbach; Judith Goodship; Rob Hastings; Bert B A de Vries
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Nature genetics 2011;43(8):729-31.
2011: Heleen H Arts; Ernie M H F Bongers; Dorus A Mans; Sylvia E C van Beersum; Machteld M Oud; Emine Bolat; Liesbeth Spruijt; Elisabeth A M Cornelissen; Janneke H M Schuurs-Hoeijmakers; Nicole de Leeuw; Valérie Cormier-Daire; Han G Brunner; Nine V A M Knoers; Ronald Roepman
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Journal of medical genetics 2011;48(6):390-5.
2011: Lisenka E L M Vissers; Ekkehart Lausch; Sheila Unger; Ana Belinda Campos-Xavier; Christian Gilissen; Antonio Rossi; Marisol Del Rosario; Hanka Venselaar; Ute Knoll; Sheela Nampoothiri; Mohandas Nair; Jürgen Spranger; Han G Brunner; Luisa Bonafé; Joris Veltman; Bernhard Zabel; andrea superti-furga
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
American journal of human genetics 2011;88(5):608-15.
2011: Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Rolph Pfundt; Bregje W M van Bon; Nicole de Leeuw; Tjitske Kleefstra; Michèl A Willemsen; Ad Geurts van Kessel; Han G Brunner; Joris A Veltman; Hans van Bokhoven; Arjan P M de Brouwer; Bert B A de Vries
Homozygosity mapping in outbred families with mental retardation.
European journal of human genetics : EJHG 2011;19(5):597-601.
2011: K M Landsbergen; J B Prins; Han G Brunner; Nicoline Hoogerbrugge
Shortened time interval between colorectal cancer diagnosis and risk testing for hereditary colorectal cancer is not related to higher psychological distress.
Familial cancer 2011;10(1):51-7.
2011: Christian Gilissen; Alexander Hoischen; Han G Brunner; Joris A Veltman
Unlocking Mendelian disease using exome sequencing.
Genome biology 2011;12(9):228.
2010: Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris Veltman
A de novo paradigm for mental retardation.
Nature genetics 2010;42(12):1109-12.
2010: Peter M Krawitz; Michal R Schweiger; Christian Rödelsperger; Carlo Marcelis; Uwe Kölsch; Christian Meisel; Friederike Stephani; Taroh Kinoshita; Yoshiko Murakami; Sebastian Bauer; Melanie Isau; Axel Fischer; Andreas Dahl; Martin Kerick; Jochen Hecht; Sebastian Köhler; Marten Jäger; Johannes Grünhagen; Birgit Jonske de Condor; Sandra Doelken; Han G Brunner; Peter Meinecke; Eberhard Passarge; Miles D Thompson; David E Cole; Denise Horn; Tony Roscioli; Stefan Mundlos; Peter N Robinson
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Nature genetics 2010;42(10):827-9.
2010: Barbara Franke; Alejandro Arias Vasquez; Joris Veltman; Han G Brunner; Mark Rijpkema; Guillén Fernández
Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals.
Biological psychiatry 2010;68(6):586-8.
2010: Christian Gilissen; Heleen H Arts; Alexander Hoischen; Liesbeth Spruijt; Dorus A Mans; Peer Arts; Bart van Lier; Marloes Steehouwer; Jeroen van Reeuwijk; Sarina G Kant; Ronald Roepman; Nine V A M Knoers; Joris Veltman; Han G Brunner
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
American journal of human genetics 2010;87(3):418-23.
2010: Andrew J Sharp; Eugenia Migliavacca; Yann Dupre; ELISAVET VASILIKI STATHAKI; Mohammad Reza Sailani; Alessandra Baumer; Albert Schinzel; Deborah J Mackay; David O Robinson; Gilda Cobellis; Luigi Cobellis; Han G Brunner; Bernhard Steiner; Stylianos E Antonarakis
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15.
Genome research 2010;20(9):1271-8.
2010: Jeroen van Reeuwijk; M J W Olderode-Berends; Christa van den Elzen; O F Brouwer; T Roscioli; maria van pampus; Hans Scheffer; Han G Brunner; Hans van Bokhoven; Frans A Hol
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Clinical genetics 2010;78(3):275-81.
2010: Evelyn N Kouwenhoven; Simon J van Heeringen; Juan J Tena; Martin Oti; Bas E Dutilh; M Eva Alonso; Elisa de la Calle-Mustienes; Leonie Smeenk; Tuula Rinne; Lilian Parsaulian; Emine Bolat; Rasa Jurgelenaite; Martijn A Huynen; Alexander Hoischen; Joris Veltman; Han G Brunner; Tony Roscioli; Emily Oates; Meredith Wilson; Miguel Manzanares; José Luis Gómez-Skarmeta; Hendrik G Stunnenberg; Marion Lohrum; Hans van Bokhoven; Huiqing Zhou
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
PLoS genetics 2010;6(8):e1001065.
2010: Dirk J A Smit; Michelle Luciano; Meike Bartels; C van Beijsterveldt; Margaret J Wright; Narelle K Hansell; Han G Brunner; G Frederiek Estourgie-van Burk; Eco J C De Geus; Nicholas G Martin; Dorret I Boomsma
Heritability of head size in Dutch and Australian twin families at ages 0-50 years.
Twin research and human genetics : the official journal of the International Society for Twin Studies 2010;13(4):370-80.
2010: Claus E Ott; Gundula Leschik; Fabienne Trotier; Louise Brueton; Han G Brunner; Wim Brussel; Encarna Guillen-Navarro; Claudia Haase; Juergen Kohlhase; Dieter Kotzot; Andrew Lane; Min Ae Lee-Kirsch; Susanne Morlot; Marleen E H Simon; Elisabeth Steichen-Gersdorf; David H Tegay; Hartmut Peters; Stefan Mundlos; Eva Klopocki
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Human mutation 2010;31(8):E1587-93.
2010: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; Elizabeth M Thompson; Han G Brunner; Bert B A de Vries; Joris Veltman
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Nature genetics 2010;42(6):483-5.
2010: Karin M Landsbergen; Judith B Prins; Yvonne J L Kamm; Han G Brunner; Nicoline Hoogerbrugge
Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years.
Familial cancer 2010;9(2):213-20.
2010: Jayne Y Hehir-Kwa; Nienke Wieskamp; Caleb Webber; Rolph Pfundt; Han G Brunner; Christian Gilissen; Bert B A de Vries; Chris P Ponting; Joris Veltman
Accurate distinction of pathogenic from benign CNVs in mental retardation.
PLoS computational biology 2010;6(4):e1000752.
2010: Joris Veltman; Han G Brunner
Understanding variable expressivity in microdeletion syndromes.
Nature genetics 2010;42(3):192-3.
2010: K M Landsbergen; Han G Brunner; Peggy Manders; Nicoline Hoogerbrugge; J B Prins
Educational-support groups for BRCA mutation carriers satisfy need for information but do not affect emotional distress.
Genetic counseling (Geneva, Switzerland) 2010;21(4):423-37.
2010: Anthony D Person; Soraya Beiraghi; Christine M Sieben; Spencer Hermanson; Ann N Neumann; Mara E Robu; J Robert Schleiffarth; Charles J Billington; Hans van Bokhoven; Jeannette M Hoogeboom; Juliana F Mazzeu; Anna Petryk; Lisa A Schimmenti; Han G Brunner; Stephen C Ekker; Jamie L Lohr
WNT5A mutations in patients with autosomal dominant Robinow syndrome.
Developmental dynamics : an official publication of the American Association of Anatomists 2010;239(1):327-37.
2010: Marjolijn Jongmans; Rolph Pfundt; Jayne Y Hehir-Kwa; Han G Brunner; Wilhelmina S Kerstjens-Frederikse
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?
Clinical dysmorphology 2010;19(1):30-2.
2009: Martin Oti; Martijn A Huynen; Han G Brunner
The biological coherence of human phenome databases.
American journal of human genetics 2009;85(6):801-8.
2009: Lisenka E L M Vissers; samarth Bhatt; Irene M Janssen; Zhilian Xia; Seema R Lalani; Rolph Pfundt; Katarzyna Derwinska; Bert B A de Vries; Christian Gilissen; Alexander Hoischen; Monika Nesteruk; Barbara Wisniowiecka-Kowalnik; Marta Smyk; Han G Brunner; Sau Wai Cheung; Ad Geurts van Kessel; Joris Veltman; Pawel Stankiewicz
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Human molecular genetics 2009;18(19):3579-93.
2009: Tjitske Kleefstra; W A van Zelst-Stams; Willy M Nillesen; Valérie Cormier-Daire; G Houge; N Foulds; Maaike W van Dooren; M H Willemsen; Rolph Pfundt; A Turner; M Wilson; J McGaughran; A Rauch; M Zenker; M P Adam; M Innes; C Davies; A González-Meneses López; R Casalone; A Weber; L A Brueton; A Delicado Navarro; M Palomares Bralo; H Venselaar; S P A Stegmann; Helger G Yntema; Hans van Bokhoven; Han G Brunner
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.
Journal of medical genetics 2009;46(9):598-606.
2009: David A Koolen; Rolph Pfundt; Nicole de Leeuw; Jayne Hehir-Kwa; Willy M Nillesen; Ineke Neefs; Ine Scheltinga; Erik A Sistermans; Dominique Smeets; Han G Brunner; Ad Geurts van Kessel; Joris Veltman; Bert B A de Vries
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.
Human mutation 2009;30(3):283-92.
2009: Carolien M Kets; Nicoline Hoogerbrugge; Joannes H J M van Krieken; Monique Goossens; Han G Brunner; M J L Ligtenberg
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.
European journal of human genetics : EJHG 2009;17(2):159-64.
2009: K M Landsbergen; J B Prins; Han G Brunner; N Hoogerbrugge
Genetic testing offered directly after the diagnosis of colorectal cancer: a pilot study on the reactions of patients.
Genetic counseling (Geneva, Switzerland) 2009;20(4):317-25.
2009: Karin M Landsbergen; Judith B Prins; Han G Brunner; Floris W Kraaimaat; Nicoline Hoogerbrugge
Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact.
Familial cancer 2009;8(4):325-37.
2009: M J L Ligtenberg; Roland P Kuiper; Tsun Leung Chan; Monique Goossens; Konnie Hebeda; Marsha Voorendt; Tracy Y H Lee; Daniëlle Bodmer; Eveline Hoenselaar; Sandra J B Hendriks-Cornelissen; Wai Yin Tsui; Chi Kwan Kong; Han G Brunner; Ad Geurts van Kessel; Siu Tsan Yuen; J Han J M van Krieken; Suet Yi Leung; Nicoline Hoogerbrugge
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1.
Nature genetics 2009;41(1):112-7.
2009: M C J Jongmans; Conny van Ravenswaaij-Arts; N Pitteloud; T Ogata; N Sato; Hedi L Claahsen-van der Grinten; K van der Donk; S Seminara; J E H Bergman; Han G Brunner; W F Crowley; Lies Hoefsloot
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome.
Clinical genetics 2009;75(1):65-71.
2008: Terry Vrijenhoek; Jacobine E Buizer-Voskamp; Inge van der Stelt; Eric Strengman; Chiara Sabatti; Ad Geurts van Kessel; Han G Brunner; Roel A Ophoff; Joris Veltman
Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
American journal of human genetics 2008;83(4):504-10.
2008: Carlo L M Marcelis; Frans A Hol; Gail E Graham; Paul N M A Rieu; Richard Kellermayer; Rowdy P P Meijer; Dorien Lugtenberg; Hans Scheffer; Hans van Bokhoven; Han G Brunner; Arjan de Brouwer
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Human mutation 2008;29(9):1125-32.
2008: Tuula Rinne; Suzanne E Clements; Evert Lamme; Pascal Duijf; Emine Bolat; Rowdy Meijer; Hans Scheffer; Elisabeth Rosser; Tiong Yang Tan; John A McGrath; Joost Schalkwijk; Han G Brunner; Huiqing Zhou; Hans van Bokhoven
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
Human molecular genetics 2008;17(13):1968-77.
2008: Annemarie H Van Der Hout; Grétel G Oudesluijs; Andrea Venema; Joke B G M Verheij; Bart G J Mol; Patrick Rump; Han G Brunner; Yvonne J Vos; Anthonie J van Essen
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
European journal of human genetics : EJHG 2008;16(6):673-9.
2008: Nicoline Hoogerbrugge; Yvonne J L Kamm; Peter Bult; K M Landsbergen; E M H F Bongers; Han G Brunner; H J Bonenkamp; Joanne A de Hullu; M J L Ligtenberg; Carla Boetes
The impact of a false-positive MRI on the choice for mastectomy in BRCA mutation carriers is limited.
Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2008;19(4):655-9.
2008: Martin Oti; Martijn A Huynen; Han G Brunner
Phenome connections.
Trends in genetics : TIG 2008;24(3):103-6.
2008: Joseph I Friedman; T Vrijenhoek; S Markx; I M Janssen; Walter A Van Der Vliet; B H W Faas; N V Knoers; W Cahn; R S Kahn; Lisa Edelmann; Kenneth L Davis; Jeremy Silverman; Han G Brunner; Ad Geurts van Kessel; cisca wijmenga; R A Ophoff; Joris Veltman
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
Molecular psychiatry 2008;13(3):261-6.
2008: Carolien M Kets; J H J M van Krieken; Piet E J van Erp; Ton Feuth; Y H A Jacobs; Han G Brunner; M J L Ligtenberg; Nicoline Hoogerbrugge
Is early-onset microsatellite and chromosomally stable colorectal cancer a hallmark of a genetic susceptibility syndrome?
International journal of cancer. Journal international du cancer 2008;122(4):796-801.
2008: Anita Rauch; Christian T Thiel; Detlev Schindler; U Wick; Yanick J Crow; Arif B Ekici; Anthonie J van Essen; Timm Goecke; Lihadh Al-Gazali; Krystyna H Chrzanowska; Christiane Zweier; Han G Brunner; Kristin Becker; Cynthia J Curry; Bruno Dallapiccola; koenraad devriendt; Arnd Dörfler; Esther Kinning; André Megarbane; Peter Meinecke; Robert K Semple; Stephanie Spranger; Annick Toutain; Richard C Trembath; Egbert Voss; Louise Wilson; Raoul Hennekam; Francis de Zegher; Helmuth-Günther Dörr; André Reis
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
Science (New York, N.Y.) 2008;319(5864):816-9.
2008: Martin Oti; Jeroen van Reeuwijk; Martijn A Huynen; Han G Brunner
Conserved co-expression for candidate disease gene prioritization.
BMC bioinformatics 2008;9():208.
2008: Rob W J Collin; Ersan Kalay; Muhammad Tariq; Theo Peters; Bert van der Zwaag; Hanka Venselaar; Jaap Oostrik; Kwanghyuk Lee; Zubair M Ahmed; Refik Caylan; Yun Li; Henk A Spierenburg; Erol Eyupoglu; Angelien Heister; Saima Riazuddin; Elif Bahat; Muhammad Ansar; Selcuk Arslan; Bernd Wollnik; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Wasim Ahmad; Frans P M Cremers; Gert Vriend; Thomas B Friedman; Sheikh Amer Riazuddin; Suzanne M Leal; Hannie Kremer
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.
American journal of human genetics 2008;82(1):125-38.
2008: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk J Lefeber; Zsolt Urban; Stephanie Gruenewald; Willem ANNAERT; Han G Brunner; Hans van Bokhoven; Ron A Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics 2008;40(1):32-4.
2008: Marjolijn Jongmans; Lies Hoefsloot; Kim P van der Donk; Ronald J C Admiraal; Alex Magee; Ingrid van de Laar; Yvonne Hendriks; Joke B G M Verheij; Ian Walpole; Han G Brunner; Conny van Ravenswaaij-Arts
Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability.
American journal of medical genetics. Part A 2008;146A(1):43-50.
2008: Eva Morava; Dirk J Lefeber; Z Urban; Linda De Meirleir; Peter Meinecke; Gabriele Gillessen-Kaesbach; Jolanta Sykut-Cegielska; Maciej Adamowicz; I Salafsky; J Ranells; E Lemyre; Jeroen van Reeuwijk; Han G Brunner; Ron A Wevers
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
European journal of human genetics : EJHG 2008;16(1):28-35.
2007: Bart Ferwerda; Matthew B B McCall; Santos Alonso; Evangelos J Giamarellos-Bourboulis; Maria Mouktaroudi; Neskuts Izagirre; Din Syafruddin; Gibson S Kibiki; Tudor Cristea; Anneke Hijmans; Lutz Hamann; Shoshana Israel; Gehad Elghazali; Marita Troye-Blomberg; Oliver Kumpf; Boubacar Maiga; Amagana Dolo; Ogobara K Doumbo; Cornelus C Hermsen; Anton F H Stalenhoef; Reinout van Crevel; Han G Brunner; Djin-Ye Oh; Ralf R Schumann; Concepcion de la Rúa; Robert W Sauerwein; Bart Jan Kullberg; Andre J A M van der Ven; Jos W M van der Meer; Mihai G Netea
TLR4 polymorphisms, infectious diseases, and evolutionary pressure during migration of modern humans.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(42):16645-50.
2007: Ersan Kalay; Abdullah Uzumcu; Elmar Krieger; Refik Caylan; Oya Uyguner; Melike Ulubil-Emiroglu; Hidayet Erdol; Hulya Kayserili; Gunter Hafiz; Nermin Başerer; Angelien J G M Heister; Hans Christian Hennies; Peter Nürnberg; Seher Başaran; Han G Brunner; Cor W R J Cremers; Ahmet Karaguzel; Bernd Wollnik; Hannie Kremer
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation.
American journal of medical genetics. Part A 2007;143A(20):2382-9.
2007: E Mariken Ruiter; David A Koolen; Tjitske Kleefstra; Willy M Nillesen; Rolph Pfundt; Nicole de Leeuw; Ben C J Hamel; Han G Brunner; Erik A Sistermans; Bert B A de Vries
Pure subtelomeric microduplications as a cause of mental retardation.
Clinical genetics 2007;72(4):362-8.
2007: Ilse Feenstra; Lisenka E L M Vissers; Mirjam Orsel; Ad Geurts van Kessel; Han G Brunner; Joris Veltman; Conny van Ravenswaaij-Arts
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.
American journal of medical genetics. Part A 2007;143A(16):1858-67.
2007: Heleen H Arts; Dan Doherty; Sylvia van Beersum; Melissa A Parisi; Stef J F Letteboer; Nicholas T Gorden; Theo A Peters; Tina Märker; Krysta Voesenek; Aileen Kartono; Hamit Ozyurek; Federico M Farin; Hester Y Kroes; Uwe Wolfrum; Han G Brunner; Frans P M Cremers; Ian A Glass; Nine V A M Knoers; Ronald Roepman
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Nature genetics 2007;39(7):882-8.
2007: Jeroen van Reeuwijk; Prabhjit K Grewal; Mustafa A Salih; Daniel Beltrán-Valero de Bernabé; Jenny M McLaughlan; Caroline B Michielse; Ralf Herrmann; Jane E Hewitt; Alice Steinbrecher; Mohamed Z Seidahmed; Mohamed M Shaheed; Abdullah M Abomelha; Han G Brunner; Hans van Bokhoven; Thomas Voit
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Human genetics 2007;121(6):685-90.
2007: Rob W J Collin; Ersan Kalay; Jaap Oostrik; Refik Caylan; Bernd Wollnik; Selçuk Arslan; Anneke I den Hollander; Yelda Birinci; Peter Lichtner; Tim M Strom; Bayram Toraman; Lies Hoefsloot; Cor W R J Cremers; Han G Brunner; Frans P M Cremers; Ahmet Karaguzel; Hannie Kremer
Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.
Human mutation 2007;28(7):718-23.
2007: L I H Overbeek; Carolien M Kets; Konnie Hebeda; Daniëlle Bodmer; E van der Looij; Riki Willems; M Goossens; Neeltje J W Arts; Han G Brunner; J H J M van Krieken; Nicoline Hoogerbrugge; M J L Ligtenberg
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
British journal of cancer 2007;96(10):1605-12.
2007: Eva Morava; Ernie M H F Bongers; Wolfram Kress; Lilian Sie; Richard J T Rodenburg; Lambert van Den Heuvel; Han G Brunner
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome.
Clinical dysmorphology 2007;16(2):131-4.
2007: Carlo L M Marcelis; Paul Rieu; Frits A Beemer; Han G Brunner
Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings.
Clinical dysmorphology 2007;16(2):73-6.
2007: Ersan Kalay; Refik Caylan; A F Kiroglu; tekin yasar; Rob W J Collin; J G A M Heister; Jaap Oostrik; Cor W R J Cremers; Han G Brunner; Ahmet Karaguzel; Hannie Kremer
A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.
Journal of molecular medicine (Berlin, Germany) 2007;85(4):397-404.
2007: andrew sharp; Rebecca R Selzer; Joris Veltman; stefania gimelli; Giorgio Gimelli; Pasquale Striano; Antonietta Coppola; Regina Regan; Sue M Price; Nine V A M Knoers; Peggy S Eis; Han G Brunner; Raoul Hennekam; Samantha J L Knight; Bert B A de Vries; Orsetta Zuffardi; Evan E Eichler
Characterization of a recurrent 15q24 microdeletion syndrome.
Human molecular genetics 2007;16(5):567-72.
2007: Tuula Rinne; Han G Brunner; Hans van Bokhoven
p63-associated disorders.
Cell cycle (Georgetown, Tex.) 2007;6(3):262-8.
2007: Stefan J White; Lisenka E L M Vissers; Ad Geurts van Kessel; Renée X de Menezes; E Kalay; A E Lehesjoki; P C Giordano; Esther van de Vosse; M H Breuning; Han G Brunner; Johan T den Dunnen; Joris Veltman
Variation of CNV distribution in five different ethnic populations.
Cytogenetic and genome research 2007;118(1):19-30.
2007: M Oti; Han G Brunner
The modular nature of genetic diseases.
Clinical genetics 2007;71(1):1-11.
2006: Carolien M Kets; J H J M van Krieken; Konnie Hebeda; S J Wezenberg; M Goossens; Han G Brunner; M J L Ligtenberg; Nicoline Hoogerbrugge
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.
British journal of cancer 2006;95(12):1678-82.
2006: Carolien M Kets; Nicoline Hoogerbrugge; Daniëlle Bodmer; Riki Willems; Han G Brunner; J H J M van Krieken; M J L Ligtenberg
Unfavorable pathological characteristics in familial colorectal cancer with low-level microsatellite instability.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2006;19(12):1624-30.
2006: Caroline B Michielse; Meena Bhat; Angela Brady; Hussain Jafrid; José A J M van den Hurk; Yasmin Raashid; Han G Brunner; Hans van Bokhoven; George W Padberg
Refinement of the locus for hereditary congenital facial palsy on chromosome 3q21 in two unrelated families and screening of positional candidate genes.
European journal of human genetics : EJHG 2006;14(12):1306-12.
2006: Ilse Gutierrez-Roelens; Luc De Roy; Caroline Ovaert; Thierry Sluysmans; koenraad devriendt; Han G Brunner; Miikka Vikkula
A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype?
European journal of human genetics : EJHG 2006;14(12):1313-6.
2006: Nicoline Hoogerbrugge; Peter Bult; J J Han Bonenkamp; M J L Ligtenberg; Lambertus A L M Kiemeney; Joanne A de Hullu; Carla Boetes; Martinus F Niermeijer; Han G Brunner
Numerous high-risk epithelial lesions in familial breast cancer.
European journal of cancer (Oxford, England : 1990) 2006;42(15):2492-8.
2006: Anneke I den Hollander; Robert K Koenekoop; Suzanne Yzer; Irma Lopez; Maarten L Arends; Krysta Voesenek; Marijke N Zonneveld; Tim M Strom; Thomas Meitinger; Han G Brunner; Carel B Hoyng; L Ingeborgh Van Den Born; Klaus Rohrschneider; Frans P M Cremers
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
American journal of human genetics 2006;79(3):556-61.
2006: David A Koolen; Lisenka E L M Vissers; Rolph Pfundt; Nicole de Leeuw; Samantha J L Knight; Regina Regan; R Frank Kooy; Edwin Reyniers; Corrado Romano; Marco Fichera; Albert Schinzel; Alessandra Baumer; Britt-Marie Anderlid; Jacqueline Schoumans; Nine V A M Knoers; Ad Geurts van Kessel; Erik A Sistermans; Joris Veltman; Han G Brunner; Bert B A de Vries
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nature genetics 2006;38(9):999-1001.
2006: Arijit Mukhopadhyay; Konstantinos Nikopoulos; Alessandra Maugeri; Arjan de Brouwer; C Eric van Nouhuys; Camiel Boon; Rahat Perveen; Hester A A Zegers; Dienke Wittebol-Post; Pieter R van den Biesen; Saskia D van der Velde-Visser; Han G Brunner; Graeme C M Black; Carel B Hoyng; Frans P M Cremers
Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
Investigative ophthalmology & visual science 2006;47(8):3565-72.
2006: Yanick J Crow; Bruce E Hayward; Rekha Parmar; Peter Robins; Andrea Leitch; Manir Ali; Deborah N Black; Hans van Bokhoven; Han G Brunner; Ben C J Hamel; Peter Corry; Frances M Cowan; Suzanna G M Frints; Joerg Klepper; John H Livingston; Sally Ann Lynch; Roger F Massey; Jean François Meritet; Jacques L Michaud; Gerard Ponsot; Thomas Voit; Pierre Lebon; David T Bonthron; Andrew P Jackson; Deborah E Barnes; Tomas Lindahl
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Nature genetics 2006;38(8):917-20.
2006: Neil V Morgan; Louise A Brueton; Phillip Cox; Marie T Greally; John Tolmie; Shanaz Pasha; Irene A Aligianis; Hans van Bokhoven; Tamas Marton; Lihadh Al-Gazali; Jenny E V Morton; Christine Oley; Colin A Johnson; Richard C Trembath; Han G Brunner; Eamonn R Maher
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
American journal of human genetics 2006;79(2):390-5.
2006: Tjitske Kleefstra; Han G Brunner; Jeanne Amiel; Astrid R Oudakker; Willy M Nillesen; Alex Magee; David Geneviève; Valérie Cormier-Daire; Hilde Van Esch; Jean-Pierre Fryns; Ben C J Hamel; Erik A Sistermans; Bert B A de Vries; Hans van Bokhoven
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
American journal of human genetics 2006;79(2):370-7.
2006: Tuula Rinne; Emanuela Spadoni; Klaus Wilbrandt Kjaer; Cesare Danesino; Daniela Larizza; Marianne Kock; Kirsi Huoponen; Marja-Liisa Savontaus; Markku Aaltonen; Pascal Duijf; Han G Brunner; Maila Penttinen; Hans van Bokhoven
Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
European journal of human genetics : EJHG 2006;14(8):904-10.
2006: Ersan Kalay; Yun Li; Abdullah Uzumcu; Oya Uyguner; Rob W J Collin; Refik Caylan; Melike Ulubil-Emiroglu; Ferry F J Kersten; Gunter Hafiz; Erwin van Wijk; Hulya Kayserili; Edyta Rohmann; Janine Wagenstaller; Lies Hoefsloot; Tim M Strom; Gudrun Nürnberg; Nermin Baserer; Anneke I den Hollander; Frans P M Cremers; Cor W R J Cremers; Christian Becker; Han G Brunner; Peter Nürnberg; Ahmet Karaguzel; Seher Basaran; Christian Kubisch; Hannie Kremer; Bernd Wollnik
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Human mutation 2006;27(7):633-9.
2006: Tuula Rinne; Ben Hamel; Hans van Bokhoven; Han G Brunner
Pattern of p63 mutations and their phenotypes--update.
American journal of medical genetics. Part A 2006;140(13):1396-406.
2006: Marc A van Driel; Han G Brunner
Bioinformatics methods for identifying candidate disease genes.
Human genomics 2006;2(6):429-32.
2006: Stephen R F Twigg; Kazuya Matsumoto; Alexa M J Kidd; Anne Goriely; Indira B Taylor; Richard B Fisher; A J M Hoogeboom; Irene M J Mathijssen; M Teresa Lourenco; Jenny E V Morton; Elizabeth Sweeney; Louise C Wilson; Han G Brunner; John B Mulliken; Steven A Wall; Andrew O M Wilkie
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
American journal of human genetics 2006;78(6):999-1010.
2006: Jeroen van Reeuwijk; Svetlana Maugenre; Christa van den Elzen; Aad Verrips; Enrico Bertini; Francesco Muntoni; Luciano Merlini; Hans Scheffer; Han G Brunner; Pascale Guicheney; Hans van Bokhoven
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Human mutation 2006;27(5):453-9.
2006: Marc A van Driel; Jorn Bruggeman; Gert Vriend; Han G Brunner; Jack Leunissen
A text-mining analysis of the human phenome.
European journal of human genetics : EJHG 2006;14(5):535-42.
2006: Manir Ali; L J Highet; D Lacombe; C Goizet; M D King; U Tacke; M S van der Knaap; L Lagae; Christopher Rittey; Han G Brunner; Hans van Bokhoven; B Hamel; Y A Oade; A Sanchis; Isabelle Desguerre; D Cau; N Mathieu; Marie-Laure Moutard; Pierre Lebon; D Kumar; Andrew P Jackson; Yanick J Crow
A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.
Journal of medical genetics 2006;43(5):444-50.
2006: Edyta Rohmann; Han G Brunner; Hulya Kayserili; Oya Uyguner; Gudrun Nürnberg; Erin Lew; Angus Dobbie; Veraragavan 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; Chriütian Kubisch; Joseph Schlessinger; Hans van Bokhoven; Bernd Wollnik
Mutations in different components of FGF signaling in LADD syndrome.
Nature genetics 2006;38(4):414-7.
2006: Marjolijn Jongmans; Ronald J C Admiraal; Kim P van der Donk; Lisenka E L M Vissers; A F Baas; Livia Kapusta; J M van Hagen; D Donnai; T J de Ravel; Joris Veltman; Ad Geurts van Kessel; Bert B A de Vries; Han G Brunner; Lies Hoefsloot; Conny van Ravenswaaij-Arts
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Journal of medical genetics 2006;43(4):306-14.
2006: Ilse Feenstra; Han G Brunner; Conny van Ravenswaaij-Arts
Cytogenetic genotype-phenotype studies: improving genotyping, phenotyping and data storage.
Cytogenetic and genome research 2006;115(3-4):231-9.
2006: B H W Faas; J Van Der Deure; M I Wunderink; Gerard F M Merkx; Han G Brunner
Multiple congenital abnormalities in a newborn with two supernumerary marker chromosomes derived from chromosome 14.
Genetic counseling (Geneva, Switzerland) 2006;17(3):349-57.
2006: David A Koolen; Jos Herbergs; Joris Veltman; Rolph Pfundt; Hans van Bokhoven; Hans Stroink; Erik A Sistermans; Han G Brunner; Ad Geurts van Kessel; Bert B A de Vries
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Journal of human genetics 2006;51(8):721-6.
2006: Nicki Tiffin; Euan Adie; Frances Turner; Han G Brunner; Marc A van Driel; Martin Oti; Nuria Lopez-Bigas; Christos Ouzounis; Carol Perez-Iratxeta; Miguel Andrade; Adebowale Adeyemo; Mary Elizabeth Patti; Colin Semple; Winston Hide
Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes.
Nucleic acids research 2006;34(10):3067-81.
2005: Ersan Kalay; Ahmet Karaguzel; Refik Caylan; A Heister; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Arjan de Brouwer; Hannie Kremer
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Human mutation 2005;26(6):591.
2005: Ersan Kalay; Arjan de Brouwer; Refik Caylan; Sander B Nabuurs; Bernd Wollnik; Ahmet Karaguzel; J G A M Heister; Hidayet Erdol; Frans P M Cremers; Cor W R J Cremers; Han G Brunner; Hannie Kremer
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Journal of molecular medicine (Berlin, Germany) 2005;83(12):1025-32.
2005: Jeroen van Reeuwijk; M Janssen; Christa van den Elzen; D Beltran-Valero de Bernabé; Patrizia Sabatelli; Luciano Merlini; M Boon; Hans Scheffer; Martin Brockington; F Muntoni; M A Huynen; Aad Verrips; Christopher Walsh; P G Barth; Han G Brunner; Hans van Bokhoven
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
2005: Lisenka E L M Vissers; Joris Veltman; Ad Geurts van Kessel; Han G Brunner
Identification of disease genes by whole genome CGH arrays.
Human molecular genetics 2005;14 Spec No. 2():R215-23.
2005: Bert B A de Vries; Rolph Pfundt; Martijn A R Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris Veltman
Diagnostic genome profiling in mental retardation.
American journal of human genetics 2005;77(4):606-16.
2005: Bert van der Zwaag; J Peter H Burbach; Han G Brunner; Hans van Bokhoven; George W Padberg
Nucleotide variation analysis does not support a causal role for plexin-A1 in hereditary congenital facial paresis.
Brain research. Developmental brain research 2005;158(1-2):66-71.
2005: Marc A van Driel; Koen Cuelenaere; Patrick Kemmeren; Jack Leunissen; Han G Brunner; Gert Vriend
GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases.
Nucleic acids research 2005;33(Web Server issue):W758-61.
2005: Bert van der Zwaag; J Peter H Burbach; Curt Scharfe; Peter J Oefner; Han G Brunner; George W Padberg; Hans van Bokhoven
Identifying new candidate genes for hereditary facial paresis on chromosome 3q21-q22 by RNA in situ hybridization in mouse.
Genomics 2005;86(1):55-67.
2005: Han G Brunner; Hans van Bokhoven
Genetic players in esophageal atresia and tracheoesophageal fistula.
Current opinion in genetics & development 2005;15(3):341-7.
2005: Hans van Bokhoven; Jacopo Celli; Jeroen van Reeuwijk; Tuula Rinne; Bob Glaudemans; Ellen van Beusekom; Paul Rieu; Ruth Newbury-Ecob; Chin Chiang; Han G Brunner
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
Nature genetics 2005;37(5):465-7.
2005: Tjitske Kleefstra; M Smidt; Martijn J G Banning; Astrid R Oudakker; Hilde Van Esch; Arjan de Brouwer; Willy M Nillesen; Erik A Sistermans; Ben C J Hamel; Diederik R H de Bruijn; Jean-Pierre Fryns; Helger G Yntema; Han G Brunner; Bert B A de Vries; Hans van Bokhoven
Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.
Journal of medical genetics 2005;42(4):299-306.
2005: Jeroen van Reeuwijk; Han G Brunner; Hans van Bokhoven
Glyc-O-genetics of Walker-Warburg syndrome.
Clinical genetics 2005;67(4):281-9.
2005: Cecilia Giunta; Ann Randolph; Lihadh Al-Gazali; Han G Brunner; Marius Kraenzlin; Beat Steinmann
Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA).
American journal of medical genetics. Part A 2005;133A(2):158-64.
2004: David A Koolen; Willy M Nillesen; Martina H A Versteeg; Gerard F M Merkx; Nine V A M Knoers; M Kets; Sascha Vermeer; Conny van Ravenswaaij-Arts; Carolien G F de Kovel; Han G Brunner; Dominique Smeets; Bert B A de Vries; Erik A Sistermans
Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
Journal of medical genetics 2004;41(12):892-9.
2004: Lisenka E L M Vissers; Conny van Ravenswaaij-Arts; Ronald J C Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A Van Der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris Veltman; Ad Geurts van Kessel
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Nature genetics 2004;36(9):955-7.
2004: Bert van der Zwaag; Harriëtte T F M Verzijl; Karin H Wichers; Daniel Beltran-Valero de Bernabe; Han G Brunner; Hans van Bokhoven; George W Padberg
Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients.
Pediatric neurology 2004;31(2):114-8.
2004: Mirjam W J Luijendijk; Erwin van Wijk; Anne M L C Bischoff; Elmar Krieger; Patrick Huygen; Ronald Pennings; Han G Brunner; Cor W R J Cremers; Frans P M Cremers; Hannie Kremer
Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).
Human genetics 2004;115(2):149-56.
2004: Han G Brunner; Marc A van Driel
From syndrome families to functional genomics.
Nature reviews. Genetics 2004;5(7):545-51.
2004: Joris Veltman; Helger G Yntema; Dorien Lugtenberg; H Arts; Sylvain Briault; Erik H L P G Huys; Kazutoyo Osoegawa; Pieter de Jong; Han G Brunner; Ad Geurts van Kessel; Hans van Bokhoven; Eric F P M Schoenmakers
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.
Journal of medical genetics 2004;41(6):425-32.
2003: Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; huub straatman; Walter A Van Der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny van Ravenswaaij-Arts; Nine V A M Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris Veltman
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
American journal of human genetics 2003;73(6):1261-70.
2003: D Beltrán-Valero de Bernabé; Hans van Bokhoven; Ellen van Beusekom; W Van den Akker; S Kant; William B Dobyns; Bru Cormand; S Currier; B Hamel; Beril Talim; H Topaloglu; Han G Brunner
A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype.
Journal of medical genetics 2003;40(11):845-8.
2003: Dirk J de Jong; Barbara Franke; A H J Naber; Judith J H T Willemen; Angelien J G A M Heister; Han G Brunner; Carolien G F de Kovel; Frans A Hol
No evidence for involvement of IL-4R and CD11B from the IBD1 region and STAT6 in the IBD2 region in Crohn's disease.
European journal of human genetics : EJHG 2003;11(11):884-7.
2003: Jacopo Celli; Hans van Bokhoven; Han G Brunner
Feingold syndrome: clinical review and genetic mapping.
American journal of medical genetics. Part A 2003;122A(4):294-300.
2003: Mirjam W J Luijendijk; T J R van de Pol; Gerard van Duijnhoven; Anneke I den Hollander; J ten Caat; Vera Limpt, van; Han G Brunner; Hannie Kremer; Frans P M Cremers
Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.
Genomics 2003;82(4):480-90.
2003: Suzanne Yzer; L Ingeborgh Van Den Born; J Schuil; H Y Kroes; Maria van Genderen; F N Boonstra; Bellinda van den Helm; Han G Brunner; Robert K Koenekoop; Frans P M Cremers
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
Journal of medical genetics 2003;40(9):709-13.
2003: José A J M van den Hurk; Dorien J R van De Pol; Bernd Wissinger; Marc A van Driel; Lies Hoefsloot; Ilse J de Wijs; L Ingeborgh Van Den Born; John R Heckenlively; Han G Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P M Cremers
Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Human genetics 2003;113(3):268-75.
2003: Pascal Duijf; Hans van Bokhoven; Han G Brunner
Pathogenesis of split-hand/split-foot malformation.
Human molecular genetics 2003;12 Spec No 1():R51-60.
2003: Marc A van Driel; Koen Cuelenaere; Patrick Kemmeren; Jack Leunissen; Han G Brunner
A new web-based data mining tool for the identification of candidate genes for human genetic disorders.
European journal of human genetics : EJHG 2003;11(1):57-63.
2003: Nicoline Hoogerbrugge; Riki Willems; Han van Krieken; L A Kiemeney; M Weijmans; Fokko M Nagengast; Neeltje J W Arts; Han G Brunner; M J L Ligtenberg
Very low incidence of microsatellite instability in rectal cancers from families at risk for HNPCC.
Clinical genetics 2003;63(1):64-70.
2003: Nicoline Hoogerbrugge; Peter Bult; L M de Widt-Levert; Louk V A M Beex; Lambertus A L M Kiemeney; M J L Ligtenberg; L F A G Massuger; Carla Boetes; Peggy Manders; Han G Brunner
High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2003;21(1):41-5.
2002: Bert van der Zwaag; Anita J C G M Hellemons; William P J Leenders; J Peter H Burbach; Han G Brunner; George W Padberg; Hans van Bokhoven
PLEXIN-D1, a novel plexin family member, is expressed in vascular endothelium and the central nervous system during mouse embryogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists 2002;225(3):336-43.
2002: Daniel Beltrán-Valero de Bernabé; Sophie Currier; Alice Steinbrecher; Jacopo Celli; Ellen van Beusekom; Bert van der Zwaag; Hulya Kayserili; Luciano Merlini; David Chitayat; William B Dobyns; Bru Cormand; Anna-Elina Lehesjoki; Jesús Cruces; Thomas Voit; Christopher Walsh; Hans van Bokhoven; Han G Brunner
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics 2002;71(5):1033-43.
2002: Han G Brunner; Ben C J Hamel; Hans van Bokhoven Hv
P63 gene mutations and human developmental syndromes.
American journal of medical genetics 2002;112(3):284-90.
2002: Helger G Yntema; Tjitske Kleefstra; Astrid R Oudakker; Tom Romein; Bert B A de Vries; Willy M Nillesen; Erik A Sistermans; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Low frequency of MECP2 mutations in mentally retarded males.
European journal of human genetics : EJHG 2002;10(8):487-90.
2002: Helger G Yntema; Francis A M Poppelaars; Esther Derksen; Astrid R Oudakker; Tanja van Roosmalen; Anja Jacobs; Hanneke Obbema; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
American journal of medical genetics 2002;110(3):243-7.
2002: Hans van Bokhoven; Han G Brunner
Splitting p63.
American journal of human genetics 2002;71(1):1-13.
2002: Bert van der Zwaag; Harriëtte T F M Verzijl; D Beltran-Valero De Bernabe; Victor Schuster; Hans van Bokhoven; Hannie Kremer; M van Reen; G H Wichers; Han G Brunner; George W Padberg
Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10.
Journal of medical genetics 2002;39(6):E30.
2002: John Martens; Serge Lumbroso; Miriam Verhoef-Post; Virginie Georget; Annette Richter-Unruh; M Szarras-Czapnik; T E Romer; Han G Brunner; Axel P N Themmen; Charles Sultan
Mutant luteinizing hormone receptors in a compound heterozygous patient with complete Leydig cell hypoplasia: abnormal processing causes signaling deficiency.
The Journal of clinical endocrinology and metabolism 2002;87(6):2506-13.
2002: Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew H Crosby; Andra Ion; Raju Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
American journal of human genetics 2002;70(6):1555-63.
2002: Joris Veltman; Eric F P M Schoenmakers; Bert H J Eussen; Irene M Janssen; Gerard F M Merkx; Brigitte van Cleef; Conny van Ravenswaaij-Arts; Han G Brunner; Dominique Smeets; Ad Geurts van Kessel
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.
American journal of human genetics 2002;70(5):1269-76.
2002: Jeffrey E Ming; Michelle E Kaupas; Erich Roessler; Han G Brunner; Mahin Golabi; Mustafa Tekin; Robert F Stratton; Eva Sujansky; Sherri J Bale; Maximilian Muenke
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Human genetics 2002;110(4):297-301.
2002: Pascal Duijf; Kaate R J Vanmolkot; Peter Propping; Waltraut Friedl; Elmar Krieger; Frank McKeon; Volker Dötsch; Han G Brunner; Hans van Bokhoven
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.
Human molecular genetics 2002;11(7):799-804.
2002: Alessandra Maugeri; Kris Flothmann; Nadine Hemmrich; Sofie Ingvast; Paula Jorge; Eva Paloma; Reshma Patel; Jean-Michel Rozet; Jaana Tammur; Francesco Testa; Susana Balcells; Alan C Bird; Han G Brunner; Carel B Hoyng; Andres Metspalu; Francesca Simonelli; Rando Allikmets; Shomi S Bhattacharya; Michele D'Urso; Roser Gonzàlez-Duarte; Josseline Kaplan; Gerard te Meerman; Rosário Santos; Marianne Schwartz; Guy Van Camp; Claes Wadelius; Bernhard H F Weber; Frans P M Cremers
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
European journal of human genetics : EJHG 2002;10(3):197-203.
2002: Kees Noordam; Ineke van der Burgt; Han G Brunner; Barto J Otten
The relationship between clinical severity of Noonan's syndrome and growth, growth hormone (GH) secretion and response to GH treatment.
Journal of pediatric endocrinology & metabolism : JPEM 2002;15(2):175-80.
2002: Ronald J C Admiraal; Y M Szymko; Andrew J Griffith; Han G Brunner; Patrick Huygen
Hearing impairment in Stickler syndrome.
Advances in oto-rhino-laryngology 2002;61():216-23.
2002: Annette Richter-Unruh; John Martens; Miriam Verhoef-Post; Hendrika T Wessels; W A Kors; G H G Sinnecker; Annemie L M Boehmer; Stenvert L S Drop; sergio toledo; Han G Brunner; Axel P N Themmen
Leydig cell hypoplasia: cases with new mutations, new polymorphisms and cases without mutations in the luteinizing hormone receptor gene.
Clinical endocrinology 2002;56(1):103-12.
2001: Marco Tartaglia; Ernest L Mehler; R Goldberg; Giuseppe Zampino; Han G Brunner; Hannie Kremer; Ineke van der Burgt; Andrew H Crosby; Andra Ion; Steve Jeffery; Kamini Kalidas; Michael A Patton; Raju Kucherlapati; Bruce D Gelb
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Nature genetics 2001;29(4):465-8.
2001: Anneke I den Hollander; K Johnson; Yvette J M de Kok; A Klebes; Han G Brunner; Elisabeth Knust; Frans P M Cremers
CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.
Human molecular genetics 2001;10(24):2767-73.
2001: G van der Wal; Barto J Otten; Han G Brunner; Ineke van der Burgt
3-M syndrome: description of six new patients with review of the literature.
Clinical dysmorphology 2001;10(4):241-52.
2001: Annemie L M Boehmer; O Brinkmann; Hennie T Brüggenwirth; C van Assendelft; Barto J Otten; MC Verleun-Mooijman; Martinus F Niermeijer; Han G Brunner; Catrienus W Rouwé; J J J Waelkens; Wilma Oostdijk; W J Kleijer; Theo Van der Kwast; M A de Vroede; Stenvert L S Drop
Genotype versus phenotype in families with androgen insensitivity syndrome.
The Journal of clinical endocrinology and metabolism 2001;86(9):4151-60.
2001: Hans van Bokhoven; Ben C J Hamel; Michael Bamshad; Eugenio Sangiorgi; Fiorella Gurrieri; Pascal Duijf; Kaate R J Vanmolkot; Ellen van Beusekom; Sylvia van Beersum; Jacopo Celli; Gerard F M Merkx; R Tenconi; Jean-Pierre Fryns; Alain Verloes; Ruth Newbury-Ecob; A Raas-Rotschild; Frank Majewski; F A Beemer; Andreas R Janecke; David Chitayat; G Crisponi; Hulya Kayserili; J R Yates; Giovanni Neri; Han G Brunner
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
American journal of human genetics 2001;69(3):481-92.
2001: Anneke I den Hollander; John R Heckenlively; L Ingeborgh Van Den Born; Yvette J M de Kok; Saskia D van der Velde-Visser; Ulrich Kellner; Bernhard Jurklies; Mary J van Schooneveld; Anita Blankenagel; Klaus Rohrschneider; Bernd Wissinger; J R M Cruysberg; August F Deutman; Han G Brunner; Eckart Apfelstedt-Sylla; Carel B Hoyng; Frans P M Cremers
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.
American journal of human genetics 2001;69(1):198-203.
2001: John A McGrath; Pascal Duijf; V Doetsch; Alan D Irvine; R de Waal ; Kaate R J Vanmolkot; Vesarat Wessagowit; A Kelly; David J Atherton; W Andrew Griffiths; S J Orlow; A van Haeringen; M G Ausems; A Yang; Frank McKeon; Michael Bamshad; Han G Brunner; Ben C J Hamel; Hans van Bokhoven
Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.
Human molecular genetics 2001;10(3):221-9.
2000: Andra Ion; Andrew H Crosby; Hannie Kremer; N Kenmochi; M van Reen; CD Fenske; Ineke van der Burgt; Han G Brunner; K Montgomery; Raju Kucherlapati; Michael A Patton; C Page; Edwin C M Mariman; Steve Jeffery
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.
Journal of medical genetics 2000;37(11):884-6.
2000: Alessandra Maugeri; B Jeroen Klevering; Klaus Rohrschneider; Anita Blankenagel; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
American journal of human genetics 2000;67(4):960-6.
2000: Hans van Bokhoven; Jacopo Celli; Hulya Kayserili; Ellen van Beusekom; S Balci; W Brussel; F Skovby; B Kerr; E F Percin; N Akarsu; Han G Brunner
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
Nature genetics 2000;25(4):423-6.
2000: Yanick J Crow; Andrew P Jackson; Emma Roberts; Ellen van Beusekom; P Barth; Peter Corry; Colin D Ferrie; Ben C J Hamel; R Jayatunga; Gulshan Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; Robert C McWilliam; A Meager; Christopher Rittey; John B P Stephenson; John Tolmie; A Verrips; Thomas Voit; Hans van Bokhoven; Han G Brunner; C Geoffrey Woods
Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.
American journal of human genetics 2000;67(1):213-21.
2000: Ronald J C Admiraal; Han G Brunner; T L Dijkstra; Patrick Huygen; Cor W R J Cremers
Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation.
The Laryngoscope 2000;110(3 Pt 1):457-61.
2000: Jacopo Celli; Ellen van Beusekom; Raoul Hennekam; M E Gallardo; D F Smeets; Santiago Rodríguez de Córdoba; Jeffrey W Innis; M Frydman; R König; H Kingston; John Tolmie; L C Govaerts; Hans van Bokhoven; Han G Brunner
Familial syndromic esophageal atresia maps to 2p23-p24.
American journal of human genetics 2000;66(2):436-44.
1999: Helger G Yntema; Bellinda van den Helm; J Kissing; Gerard van Duijnhoven; Francis A M Poppelaars; J Chelly; Claude Moraine; Jean-Pierre Fryns; Ben C J Hamel; H Heilbronner; H J Pander; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers; Hans van Bokhoven
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.
Genomics 1999;62(3):332-43.
1999: Maurice A M van Steensel; J Celli; J H van Bokhoven; Han G Brunner
Probing the gene expression database for candidate genes.
European journal of human genetics : EJHG 1999;7(8):910-9.
1999: Ineke van der Burgt; Geert Thoonen; N Roosenboom; C Assman-Hulsmans; F Gabreels; Barto J Otten; Han G Brunner
Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression.
The Journal of pediatrics 1999;135(6):707-13.
1999: Jacopo Celli; Pascal Duijf; Ben C J Hamel; Michael Bamshad; B Kramer; Arie P T Smits; Ruth Newbury-Ecob; Raoul Hennekam; Griet Van Buggenhout; A van Haeringen; C Geoffrey Woods; A J van Essen; R de Waal; G Vriend; D A Haber; A Yang; Frank McKeon; Han G Brunner; Hans van Bokhoven
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
Cell 1999;99(2):143-53.
1999: Anneke I den Hollander; Jacoline B ten Brink; Yvette J M de Kok; Simone van Soest; L Ingeborgh Van Den Born; MA van Driel; Dorien J R van De Pol; Annette M Payne; S S Bhattacharya; Ulrich Kellner; Carel B Hoyng; A Westerveld; Han G Brunner; EM Bleeker-Wagemakers; August F Deutman; John R Heckenlively; Frans P M Cremers; Arthur A B Bergen
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Nature genetics 1999;23(2):217-21.
1999: Joep H A M Tuerlings; Barto J Otten; C J Hamilton; Han G Brunner
Radial defects and testicular dysfunction: a new syndrome?
Clinical dysmorphology 1999;8(3):203-5.
1999: Anneke I den Hollander; MA van Driel; Yvette J M de Kok; Dorien J R van De Pol; Carel B Hoyng; Han G Brunner; August F Deutman; Frans P M Cremers
Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.
Genomics 1999;58(3):240-9.
1999: M J Ligtenberg; M Siers; Axel P N Themmen; T G Hanselaar; W Willemsen; Han G Brunner
Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors.
The Journal of clinical endocrinology and metabolism 1999;84(6):2233-4.
1999: Rahat Perveen; Niki Hart-Holden; M J Dixon; W Wiszniewski; A E Fryer; Han G Brunner; A J Pinkners; S E van Beersum; Graeme C M Black
Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
Genomics 1999;57(2):219-26.
1999: Alessandra Maugeri; MA van Driel; Dorien J R van De Pol; B Jeroen Klevering; F J van Haren; Nel Tijmes; Arthur A B Bergen; Klaus Rohrschneider; Anita Blankenagel; Alfred J L G Pinckers; N Dahl; Han G Brunner; August F Deutman; Carel B Hoyng; Frans P M Cremers
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
American journal of human genetics 1999;64(4):1024-35.
1999: M J L Ligtenberg; Frans B L Hogervorst; H W Willems; PJ Arts; G Brink; S Hageman; E A Bosgoed; E van der Looij; Matti A Rookus; Peter Devilee; E M Vos; G Wigbout; P M Struycken; Fred H Menko; E J Th Rutgers; Lies Hoefsloot; E C Mariman; Han G Brunner; Laura J van 't Veer
Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2.
British journal of cancer 1999;79(9-10):1475-8.
1999: Hannie Kremer; John Martens; M van Reen; Miriam Verhoef-Post; J M Wit; Barto J Otten; Stenvert L S Drop; H A Delemarre-van de Waal; M Pombo-Arias; F De Luca; N Potau; J M Buckler; M Jansen; John Parks; H A Latif; G W Moll; W Epping; G Saggese; Edwin C M Mariman; Axel P N Themmen; Han G Brunner
A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.
The Journal of clinical endocrinology and metabolism 1999;84(3):1136-40.
1999: Hans van Bokhoven; M Jung; Arie P T Smits; Sylvia van Beersum; Franz Rüschendorf; Maurice A M van Steensel; M Veenstra; Joep H A M Tuerlings; Edwin C M Mariman; Han G Brunner; T F Wienker; A Reis; H H Ropers; Ben C J Hamel
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.
American journal of human genetics 1999;64(2):538-46.
1999: Yvette J M de Kok; Steven J H Bom; T M Brunt; Martijn H Kemperman; E van Beusekom; Saskia D van der Velde-Visser; Nahid G Robertson; Cynthia C Morton; Patrick Huygen; Wim I M Verhagen; Han G Brunner; Cor W R J Cremers; Frans P M Cremers
A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.
Human molecular genetics 1999;8(2):361-6.
1999: J R M Cruysberg; Conny van Ravenswaaij-Arts; Alfred J L G Pinckers; R Roddi; Han G Brunner
Craniosynostosis associated with ectopia lentis in monozygotic twin sisters.
American journal of medical genetics 1999;82(3):201-5.
1999: Anneke I den Hollander; Saskia D van der Velde-Visser; Alfred J L G Pinckers; Carel B Hoyng; Han G Brunner; Frans P M Cremers
Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.
Human genetics 1999;104(1):73-6.
1998: Axel P N Themmen; John Martens; Han G Brunner
Activating and inactivating mutations in LH receptors.
Molecular and cellular endocrinology 1998;145(1-2):137-42.
1998: Joep H A M Tuerlings; M J Ligtenberg; Jan A M Kremer; M Siers; E J H Meuleman; D D M Braat; Lies Hoefsloot; Hans M W M Merkus; Han G Brunner
Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene.
Human reproduction (Oxford, England) 1998;13(8):2098-101.
1998: John Martens; Miriam Verhoef-Post; Neusa Abelin; Marilza C L Ezabella; sergio toledo; Han G Brunner; Axel P N Themmen
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype.
Molecular endocrinology (Baltimore, Md.) 1998;12(6):775-84.
1998: J R M Cruysberg; R W Draaijer; Alfred J L G Pinckers; Han G Brunner
Congenital corneal anesthesia in children with the VACTERL association.
American journal of ophthalmology 1998;125(1):96-8.
1997: Maurice A M van Steensel; Pieter Buma; Maarten C de Waal Malefijt; F H van den Hoogen; Han G Brunner
Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.
American journal of medical genetics 1997;70(3):315-23.
1997: Axel P N Themmen; John Martens; Han G Brunner
Gonadotropin receptor mutations.
The Journal of endocrinology 1997;153(2):179-83.
1997: Robbert J H Ensink; Han G Brunner; Cor W R J Cremers
A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait.
Genetic counseling (Geneva, Switzerland) 1997;8(4):285-90.
1997: Hans van Bokhoven; J Kissing; Marga Schepens; Sylvia van Beersum; A Simons; P Riegman; J A McMahon; A P McMahon; Han G Brunner
Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization.
Cytogenetics and cell genetics 1997;77(3-4):288-9.
1997: Robbert J H Ensink; Cor W R J Cremers; Han G Brunner
Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome.
Archives of otolaryngology--head & neck surgery 1997;123(1):97-9.
1996: sergio toledo; Han G Brunner; R Kraaij; M Post; Patricia Dahia; C Y Hayashida; A P Kremer H Themmen
An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female.
The Journal of clinical endocrinology and metabolism 1996;81(11):3850-4.
1996: Robbert J H Ensink; Henri Marres; Han G Brunner; Cor W R J Cremers
Hearing loss in the Saethre-Chotzen syndrome.
The Journal of laryngology and otology 1996;110(10):952-7.
1996: Yvette J M de Kok; E R Vossenaar; Cor W R J Cremers; Niklas Dahl; Jocelyn Laporte; L J Hu; Didier Lacombe; Nathan Fischel-Ghodsian; R A Friedman; L S Parnes; P Thorpe; Maria Bitner-Glindzicz; H J Pander; H Heilbronner; J Graveline; J T den Dunnen; Han G Brunner; Hans-Hilger Ropers; Frans P M Cremers
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.
Human molecular genetics 1996;5(9):1229-35.
1996: HH Lemmink; W N Nillesen; T Mochizuki; Cornelis H Schröder; Han G Brunner; BA van Oost; Leo A H Monnens; H J M Smeets
Benign familial hematuria due to mutation of the type IV collagen alpha4 gene.
The Journal of clinical investigation 1996;98(5):1114-8.
1996: Axel P N Themmen; Han G Brunner
Luteinizing hormone receptor mutations and sex differentiation.
European journal of endocrinology / European Federation of Endocrine Societies 1996;134(5):533-40.
1996: J J Van Den Ende; C J Van Der Burgt; M C Jansweijer; Ben C J Hamel; Han G Brunner
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association.
Clinical dysmorphology 1996;5(1):1-7.
1995: R Kraaij; M Post; Hannie Kremer; E Milgrom; W Epping; Han G Brunner; J Anton Grootegoed; Axel P N Themmen
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.
The Journal of clinical endocrinology and metabolism 1995;80(11):3168-72.
1995: Griet Van Buggenhout; Han G Brunner; J C Trommelen; Ben C J Hamel
Zimmermann-Laband syndrome in a patient with severe mental retardation.
Genetic counseling (Geneva, Switzerland) 1995;6(4):321-7.
1994: Han G Brunner; Sylvia van Beersum; Matthew L Warman; Bjorn R Olsen; Hans-Hilger Ropers; Edwin C M Mariman
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
Human molecular genetics 1994;3(9):1561-4.
1994: HH Lemmink; T Mochizuki; L P van den Heuvel; Cornelis H Schröder; A Barrientos; Leo A H Monnens; BA van Oost; Han G Brunner; S T Reeders; H J M Smeets
Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
Human molecular genetics 1994;3(8):1269-73.
1994: C E M de Die-Smulders; C J Höweler; J F Mirandolle; Han G Brunner; V Hovers; H Brüggenwirth; H J M Smeets; Joep P M Geraedts
Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.
Journal of medical genetics 1994;31(8):595-601.
1994: I Huber; Maria Bitner-Glindzicz; Yvette J M de Kok; S M van der Maarel; Y Ishikawa-Brush; Anthony P Monaco; D Robinson; Sue Malcolm; Marcus E Pembrey; Han G Brunner
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.
Human molecular genetics 1994;3(7):1151-4.
1994: HH Lemmink; Leo A J Kluijtmans; Han G Brunner; Cornelis H Schröder; bertrand knebelmann; E Jelínková; BA van Oost; Leo A H Monnens; H J M Smeets
Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
Human molecular genetics 1994;3(2):317-22.
1993: Han G Brunner; C J Höweler; H J M Smeets; Bé Wieringa
[An unstable mutation as cause of myotonic dystrophy].
Nederlands tijdschrift voor geneeskunde 1993;137(48):2468-72.
1993: Han G Brunner; H T Brüggenwirth; W Nillesen; G Jansen; Ben C J Hamel; R L Hoppe; C E de Die; C J Höweler; BA van Oost; Bé Wieringa
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).
American journal of human genetics 1993;53(5):1016-23.
1993: Han G Brunner; M Nelen; X O Breakefield; Hans-Hilger Ropers; BA van Oost
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A.
Science (New York, N.Y.) 1993;262(5133):578-80.
1993: HH Lemmink; Cornelis H Schröder; Han G Brunner; M R Nelen; J Zhou; K Tryggvason; W A Haagsma-Schouten; A P Roodvoets; Wolfgang Rascher; BA van Oost
Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
Genomics 1993;17(2):485-9.
1993: Han G Brunner; M R Nelen; P van Zandvoort; N G Abeling; A H van Gennip; E C Wolters; M A Kuiper; Hans-Hilger Ropers; BA van Oost
X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.
American journal of human genetics 1993;52(6):1032-9.
1993: Han G Brunner; G Jansen; W Nillesen; M R Nelen; C E de Die; C J Höweler; BA van Oost; Bé Wieringa; Hans-Hilger Ropers; H J M Smeets
Brief report: reverse mutation in myotonic dystrophy.
The New England journal of medicine 1993;328(7):476-80.
1992: E J Meijers-Heijboer; Lodewijk A Sandkuijl; Han G Brunner; H J M Smeets; A J Hoogeboom; Wout Deelen; JO van Hemel; M R Nelen; Dominique Smeets; Martinus F Niermeijer
Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.
Journal of medical genetics 1992;29(12):853-7.
1992: Han G Brunner; Ben C J Hamel; P Rieu; C J Höweler; F T Peters
Intestinal pseudo-obstruction in myotonic dystrophy.
Journal of medical genetics 1992;29(11):791-3.
1992: Han G Brunner; W Nillesen; BA van Oost; G Jansen; Bé Wieringa; Hans-Hilger Ropers; H J M Smeets
Presymptomatic diagnosis of myotonic dystrophy.
Journal of medical genetics 1992;29(11):780-4.
1992: H J M Smeets; W M Nillesen; F Los; H F M Busch; R G Korneluk; Bé Wieringa; Han G Brunner
Prenatal diagnosis of myotonic dystrophy by direct mutation analysis.
Lancet 1992;340(8813):237-8.
1992: I Bach; Han G Brunner; P Beighton; R H Ruvalcaba; W Reardon; Marcus E Pembrey; Saskia D van der Velde-Visser; G A Bruns; Cor W R J Cremers; Frans P M Cremers
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).
American journal of human genetics 1992;51(1):38-44.
1991: Han G Brunner; H J M Smeets; W Nillesen; BA van Oost; J B van den Biezenbos; E M Joosten; Alfred J L G Pinckers; Ben C J Hamel; A G Theeuwes; Bé Wieringa
Myotonic dystrophy. Predictive value of normal results on clinical examination.
Brain : a journal of neurology 1991;114 ( Pt 5)():2303-11.
1991: Han G Brunner; R M Winter
Autosomal dominant inheritance of abnormalities of the hands and feet with short palpebral fissures, variable microcephaly with learning disability, and oesophageal/duodenal atresia.
Journal of medical genetics 1991;28(6):389-94.
1991: H J M Smeets; Rosella P M G Hermens; Han G Brunner; Hans-Hilger Ropers; Bé Wieringa
Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus.
Genomics 1991;9(2):257-63.
1991: BA van Oost; P M van Zandvoort; W Tünte; Han G Brunner; A J Hoogeboom; P D Maaswinkel-Mooy; J Bakkeren; B Hamel; Hans-Hilger Ropers
Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.
Human genetics 1991;86(4):404-7.
1991: Han G Brunner; F Spaans; H J M Smeets; M Coerwinkel-Driessen; T Hulsebos; Bé Wieringa; Hans-Hilger Ropers
Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy.
Neurology 1991;41(1):80-4.
1991: Han G Brunner; B Smeets; D Smeets; M Nelen; Cor W R J Cremers; Hans-Hilger Ropers
Molecular genetics of X-linked hearing impairment.
Annals of the New York Academy of Sciences 1991;630():176-90.
1989: Han G Brunner; H J M Smeets; H M Lambermon; M Coerwinkel-Driessen; BA van Oost; Bé Wieringa; Hans-Hilger Ropers
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19.
Genomics 1989;5(3):589-95.
1989: H J M Smeets; Han G Brunner; Hans-Hilger Ropers; Bé Wieringa
Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.
Human genetics 1989;83(3):245-51.
1989: Han G Brunner; Robert G Korneluk; M Coerwinkel-Driessen; A MacKenzie; H J M Smeets; H M Lambermon; BA van Oost; Bé Wieringa; Hans-Hilger Ropers
Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).
Human genetics 1989;81(4):308-10.