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Hans-Hilger Ropers

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Bashiardes Stavros; Kousoulidou Ludmila; van Bokhoven Hans; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; de Brouwer Arjan P M; Van Esch Hilde; Froyen Guy; Patsalis Philippos C
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
Kariminejad Ariana; Kariminejad Roxana; Tzschach Andreas; Ullmann Reinhard; Ahmed Alisho; Asghari-Roodsari Alaleh; Salehpour Shadab; Afroozan Fariba; Ropers Hans-Hilger; Kariminejad Mohammad Hasan
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.
Pouya Ali Reza; Abedini Seyedeh Sedigheh; Mansoorian Neda; Behjati Farkhondeh; Nikzat Nooshin; Mohseni Marzieh; Nieh Sahar Esmaeeli; Abbasi Moheb Lia; Darvish Hossein; Monajemi Gholamreza Bahrami; Banihashemi Susan; Kahrizi Kimia; Ropers Hans Hilger; Najmabadi Hossein
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

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2009: Bashiardes Stavros; Kousoulidou Ludmila; van Bokhoven Hans; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; de Brouwer Arjan P M; Van Esch Hilde; Froyen Guy; Patsalis Philippos C
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.
The Journal of molecular diagnostics : JMD 2009;11(6):562-8.
2009: Kariminejad Ariana; Kariminejad Roxana; Tzschach Andreas; Ullmann Reinhard; Ahmed Alisho; Asghari-Roodsari Alaleh; Salehpour Shadab; Afroozan Fariba; Ropers Hans-Hilger; Kariminejad Mohammad Hasan
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.
American journal of medical genetics. Part A 2009;149A(7):1544-9.
2009: Pouya Ali Reza; Abedini Seyedeh Sedigheh; Mansoorian Neda; Behjati Farkhondeh; Nikzat Nooshin; Mohseni Marzieh; Nieh Sahar Esmaeeli; Abbasi Moheb Lia; Darvish Hossein; Monajemi Gholamreza Bahrami; Banihashemi Susan; Kahrizi Kimia; Ropers Hans Hilger; Najmabadi Hossein
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.
European journal of medical genetics 2009;52(4):170-3.
2009: Shoichet Sarah A; Waibel Stefan; Endruhn Sonja; Sperfeld Anne D; Vorwerk Brita; Müller Ines; Erdogan Fikret; Ludolph Albert C; Ropers Hans-Hilger; Ullmann Reinhard
Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridization.
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases 2009;10(3):162-9.
2009: Tzschach A; Ramel C; Kron A; Seipel B; Wüster C; Cordes U; Liehr T; Hoeltzenbein M; Menzel C; Ropers H-H; Ullmann R; Kalscheuer V; Decker J; Steinberger D
Hypergonadotropic hypogonadism in a patient with inv ins (2;4).
International journal of andrology 2009;32(3):226-30.
2009: Kalscheuer Vera M; Musante Luciana; Fang Cheng; Hoffmann Kirsten; Fuchs Celine; Carta Eloisa; Deas Emma; Venkateswarlu Kanamarlapudi; Menzel Corinna; Ullmann Reinhard; Tommerup Niels; Dalprà Leda; Tzschach Andreas; Selicorni Angelo; Lüscher Bernhard; Ropers Hans-Hilger; Harvey Kirsten; Harvey Robert J
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Human mutation 2009;30(1):61-8.
2008: Erdogan F; Larsen L A; Zhang L; Tümer Z; Tommerup N; Chen W; Jacobsen J R; Schubert M; Jurkatis J; Tzschach A; Ropers H-H; Ullmann R
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
Journal of medical genetics 2008;45(11):704-9.
2008: Frints Suzanna Gerarda Maria; Lenzner Steffen; Bauters Mareike; Jensen Lars Riff; Van Esch Hilde; des Portes Vincent; Moog Ute; Macville Merryn Victor Erik; van Roozendaal Kees; Schrander-Stumpel Constance Theresia Rimbertha Maria; Tzschach Andreas; Marynen Peter; Fryns Jean-Pierre; Hamel Ben; van Bokhoven Hans; Chelly Jamel; Beldjord Chérif; Turner Gillian; Gecz Jozef; Moraine Claude; Raynaud Martine; Ropers Hans Hilger; Froyen Guy; Kuss Andreas Walter
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
European journal of human genetics : EJHG 2008;16(9):1029-37.
2008: Kalscheuer Vera M; Feenstra Ilse; Van Ravenswaaij-Arts Conny M A; Smeets Dominique F C M; Menzel Corinna; Ullmann Reinhard; Musante Luciana; Ropers Hans-Hilger
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.
American journal of medical genetics. Part A 2008;146A(16):2053-9.
2008: Klopocki Eva; Graul-Neumann Luitgard M; Grieben Ulrike; Tönnies Holger; Ropers Hans-Hilger; Horn Denise; Mundlos Stefan; Ullmann Reinhard
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
European journal of pediatrics 2008;167(8):903-8.
2008: Chen Wei; Kalscheuer Vera; Tzschach Andreas; Menzel Corinna; Ullmann Reinhard; Schulz Marcel Holger; Erdogan Fikret; Li Na; Kijas Zofia; Arkesteijn Ger; Pajares Isidora Lopez; Goetz-Sothmann Margret; Heinrich Uwe; Rost Imma; Dufke Andreas; Grasshoff Ute; Glaeser Birgitta; Vingron Martin; Ropers H Hilger
Mapping translocation breakpoints by next-generation sequencing.
Genome research 2008;18(7):1143-9.
2008: Garshasbi Masoud; Hadavi Valeh; Habibi Haleh; Kahrizi Kimia; Kariminejad Roxana; Behjati Farkhondeh; Tzschach Andreas; Najmabadi Hossein; Ropers Hans Hilger; Kuss Andreas Walter
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
American journal of human genetics 2008;82(5):1158-64.
2008: Møller Rikke S; Kübart Sabine; Hoeltzenbein Maria; Heye Babett; Vogel Ida; Hansen Christian P; Menzel Corinna; Ullmann Reinhard; Tommerup Niels; Ropers Hans-Hilger; Tümer Zeynep; Kalscheuer Vera M
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
American journal of human genetics 2008;82(5):1165-70.
2008: Scheffer Ingrid E; Turner Samantha J; Dibbens Leanne M; Bayly Marta A; Friend Kathryn; Hodgson Bree; Burrows Linda; Shaw Marie; Wei Chen; Ullmann Reinhard; Ropers Hans-Hilger; Szepetowski Pierre; Haan Eric; Mazarib Aziz; Afawi Zaid; Neufeld Miriam Y; Andrews P Ian; Wallace Geoffrey; Kivity Sara; Lev Dorit; Lerman-Sagie Tally; Derry Christopher P; Korczyn Amos D; Gecz Jozef; Mulley John C; Berkovic Samuel F
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain : a journal of neurology 2008;131(Pt 4):918-27.
2008: Tzschach Andreas; Kelbova Christina; Weidensee Sabine; Peters Hartmut; Ropers Hans-Hilger; Ullmann Reinhard; Erdogan Fikret; Jurkatis Jan; Menzel Corinna; Kalscheuer Vera; Demuth Stephanie
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23).
Ophthalmic genetics 2008;29(1):37-40.
2008: Gilling Mette; Lauritsen Marlene Briciet; Møller Morten; Henriksen Karen Friis; Vicente Astrid; Oliveira Guiomar; Cintin Christina; Eiberg Hans; Andersen Paal Skyt; Mors Ole; Rosenberg Thomas; Brøndum-Nielsen Karen; Cotterill Rodney M J; Lundsteen Claes; Ropers Hans-Hilger; Ullmann Reinhard; Bache Iben; Tümer Zeynep; Tommerup Niels
A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
European journal of human genetics : EJHG 2008;16(3):312-9.
2008: Walczak-Sztulpa Joanna; Wisniewska Marzena; Latos-Bielenska Anna; Linné Maja; Kelbova Christina; Belitz Britta; Pfeiffer Lutz; Kalscheuer Vera; Erdogan Fikret; Kuss Andreas W; Ropers Hans-Hilger; Ullmann Reinhard; Tzschach Andreas
Chromosome deletions in 13q33-34: report of four patients and review of the literature.
American journal of medical genetics. Part A 2008;146(3):337-42.
2008: Moheb Lia Abbasi; Tzschach Andreas; Garshasbi Masoud; Kahrizi Kimia; Darvish Hossein; Heshmati Yaser; Kordi Alireza; Najmabadi Hossein; Ropers Hans Hilger; Kuss Andreas Walter
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
European journal of human genetics : EJHG 2008;16(2):270-3.
2008: Kirov George; Gumus Dilihan; Chen Wei; Norton Nadine; Georgieva Lyudmila; Sari Murat; O'Donovan Michael C; Erdogan Fikret; Owen Michael J; Ropers Hans-Hilger; Ullmann Reinhard
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia.
Human molecular genetics 2008;17(3):458-65.
2008: Tzschach Andreas; Chen Wei; Erdogan Fikret; Hoeller Adelheid; Ropers Hans-Hilger; Castellan Claudio; Ullmann Reinhard; Schinzel Albert
Characterization of interstitial Xp duplications in two families by tiling path array CGH.
American journal of medical genetics. Part A 2008;146A(2):197-203.
2008: Erdogan F; Belloso J M; Gabau E; Ajbro K D; Guitart M; Ropers H H; Tommerup N; Ullmann R; Tümer Z; Larsen L A
Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly.
European journal of medical genetics 2008;51(1):81-6.
2007: Kousoulidou Ludmila; Parkel Sven; Zilina Olga; Palta Priit; Puusepp Helen; Remm Maido; Turner Gillian; Boyle Jackie; van Bokhoven Hans; de Brouwer Arjan; Van Esch Hilde; Froyen Guy; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; Gecz Jozef; Kurg Ants; Patsalis Philippos C
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH.
European journal of medical genetics 2007;50(6):399-410.
2007: Mefford Heather C; Clauin Severine; Sharp Andrew J; Moller Rikke S; Ullmann Reinhard; Kapur Raj; Pinkel Dan; Cooper Gregory M; Ventura Mario; Ropers H Hilger; Tommerup Niels; Eichler Evan E; Bellanne-Chantelot Christine
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
American journal of human genetics 2007;81(5):1057-69.
2007: Engenheiro E; Saraiva J; Carreira I; Ramos L; Ropers H H; Silva E; Tommerup N; Tümer Z
Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome.
Clinical genetics 2007;72(5):464-70.
2007: Motazacker Mohammad Mahdi; Rost Benjamin Rainer; Hucho Tim; Garshasbi Masoud; Kahrizi Kimia; Ullmann Reinhard; Abedini Seyedeh Sedigheh; Nieh Sahar Esmaeeli; Amini Saeid Hosseini; Goswami Chandan; Tzschach Andreas; Jensen Lars Riff; Schmitz Dietmar; Ropers Hans Hilger; Najmabadi Hossein; Kuss Andreas Walter
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
American journal of human genetics 2007;81(4):792-8.
2007: Ropers Hans-Hilger
New perspectives for the elucidation of genetic disorders.
American journal of human genetics 2007;81(2):199-207.
2007: Ullmann Reinhard; Turner Gillian; Kirchhoff Maria; Chen Wei; Tonge Bruce; Rosenberg Carla; Field Michael; Vianna-Morgante Angela M; Christie Louise; Krepischi-Santos Ana C; Banna Lynn; Brereton Avril V; Hill Alyssa; Bisgaard Anne-Marie; Müller Ines; Hultschig Claus; Erdogan Fikret; Wieczorek Georg; Ropers H Hilger
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Human mutation 2007;28(7):674-82.
2007: Belloso Jose M; Bache Iben; Guitart Miriam; Caballin Maria Rosa; Halgren Christina; Kirchhoff Maria; Ropers Hans-Hilger; Tommerup Niels; Tümer Zeynep
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome.
European journal of human genetics : EJHG 2007;15(6):711-3.
2007: Froyen Guy; Bauters Marijke; Boyle Jackie; Van Esch Hilde; Govaerts Karen; van Bokhoven Hans; Ropers Hans-Hilger; Moraine Claude; Chelly Jamel; Fryns Jean-Pierre; Marynen Peter; Gecz Jozef; Turner Gillian
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
Human genetics 2007;121(5):539-47.
2007: Kalscheuer Vera M; FitzPatrick David; Tommerup Niels; Bugge Merete; Niebuhr Erik; Neumann Luitgard M; Tzschach Andreas; Shoichet Sarah A; Menzel Corinna; Erdogan Fikret; Arkesteijn Ger; Ropers Hans-Hilger; Ullmann Reinhard
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation.
Human genetics 2007;121(3-4):501-9.
2007: Chen Wei; Jensen Lars R; Gecz Jozef; Fryns Jean-Pierre; Moraine Claude; de Brouwer Arjan; Chelly Jamel; Moser Bettina; Ropers H Hilger; Kuss Andreas W
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
European journal of human genetics : EJHG 2007;15(3):375-8.
2007: Najmabadi Hossein; Motazacker Mohammad Mahdi; Garshasbi Masoud; Kahrizi Kimia; Tzschach Andreas; Chen Wei; Behjati Farkhondeh; Hadavi Valeh; Nieh Sahar Esmaeeli; Abedini Seyedeh Sedigheh; Vazifehmand Reza; Firouzabadi Saghar Ghasemi; Jamali Payman; Falah Masoumeh; Seifati Seyed Morteza; Grüters Annette; Lenzner Steffen; Jensen Lars R; Rüschendorf Franz; Kuss Andreas W; Ropers H Hilger
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Human genetics 2007;121(1):43-8.
2007: Klopocki Eva; Schulze Harald; Strauss Gabriele; Ott Claus-Eric; Hall Judith; Trotier Fabienne; Fleischhauer Silke; Greenhalgh Lynn; Newbury-Ecob Ruth A; Neumann Luitgard M; Habenicht Rolf; König Rainer; Seemanova Eva; Megarbane André; Ropers Hans-Hilger; Ullmann Reinhard; Horn Denise; Mundlos Stefan
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
American journal of human genetics 2007;80(2):232-40.
2007: Tzschach Andreas; Menzel Corinna; Erdogan Fikret; Schubert Marei; Hoeltzenbein Maria; Barbi Gotthold; Petzenhauser Christine; Ropers Hans-Hilger; Ullmann Reinhard; Kalscheuer Vera
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
American journal of medical genetics. Part A 2007;143(4):333-7.
2007: Erdogan Fikret; Ullmann Reinhard; Chen Wei; Schubert Marei; Adolph Sabine; Hultschig Claus; Kalscheuer Vera; Ropers Hans-Hilger; Spaich Christiane; Tzschach Andreas
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.
American journal of medical genetics. Part A 2007;143(2):172-8.
2007: Jensen Lars Riff; Lenzner Steffen; Moser Bettina; Freude Kristine; Tzschach Andreas; Wei Chen; Fryns Jean-Pierre; Chelly Jamel; Turner Gillian; Moraine Claude; Hamel Ben; Ropers Hans-Hilger; Kuss Andreas Walter
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
European journal of human genetics : EJHG 2007;15(1):68-75.
2006: Tzschach Andreas; Hoeltzenbein Maria; Hoffmann Kirsten; Menzel Corinna; Beyer Alexander; Ocker Volker; Wurster Goetz; Raynaud Martine; Ropers Hans-Hilger; Kalscheuer Vera; Heilbronner Helmut
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3.
European journal of human genetics : EJHG 2006;14(12):1317-20.
2006: Klopocki Eva; Neumann Luitgard M; Tönnies Holger; Ropers Hans-Hilger; Mundlos Stefan; Ullmann Reinhard
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
European journal of human genetics : EJHG 2006;14(12):1274-9.
2006: Müller D; Klopocki E; Neumann L M; Mundlos S; Taupitz M; Schulze I; Ropers H-H; Querfeld U; Ullmann R
A complex phenotype with cystic renal disease.
Kidney international 2006;70(9):1656-60.
2006: Cingoz S; Bisgaard A M; Bache I; Bryndorf T; Kirchoff M; Petersen W; Ropers H-H; Maas N; Van Buggenhout G; Tommerup N; Tümer Z
4q35 deletion and 10p15 duplication associated with immunodeficiency.
American journal of medical genetics. Part A 2006;140(20):2231-5.
2006: Budny Bartlomiej; Chen Wei; Omran Heymut; Fliegauf Manfred; Tzschach Andreas; Wisniewska Marzena; Jensen Lars R; Raynaud Martine; Shoichet Sarah A; Badura Magda; Lenzner Steffen; Latos-Bielenska Anna; Ropers Hans-Hilger
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: Ropers Hans-Hilger
X-linked mental retardation: many genes for a complex disorder.
Current opinion in genetics & development 2006;16(3):260-9.
2006: Gilling Mette; Dullinger Jörn S; Gesk Stefan; Metzke-Heidemann Simone; Siebert Reiner; Meyer Thomas; Brondum-Nielsen Karen; Tommerup Niels; Ropers Hans-Hilger; Tumer Zeynep; Kalscheuer Vera M; Thomas N Simon
Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.
American journal of human genetics 2006;78(5):878-83.
2006: Tzschach Andreas; Krause-Plonka Ines; Menzel Corinna; Knoblauch Andreas; Toennies Holger; Hoeltzenbein Maria; Radke Michael; Ropers Hans-Hilger; Kalscheuer Vera
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.
American journal of medical genetics. Part A 2006;140(10):1108-10.
2006: Tzschach Andreas; Lenzner Steffen; Moser Bettina; Reinhardt Richard; Chelly Jamel; Fryns Jean-Pierre; Kleefstra Tjitske; Raynaud Martine; Turner Gillian; Ropers Hans-Hilger; Kuss Andreas; Jensen Lars Riff
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation.
Human mutation 2006;27(4):389.
2006: Klopocki Eva; Fiebig Britta; Robinson Peter; Tönnies Holger; Erdogan Fikret; Ropers Hans-Hilger; Mundlos Stefan; Ullmann Reinhard
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2.
American journal of medical genetics. Part A 2006;140(8):873-7.
2006: Tzschach Andreas; Krause-Plonka Ines; Menzel Corinna; Kalscheuer Vera; Toennies Holger; Scherthan Harry; Knoblauch Andreas; Radke Michael; Ropers Hans-Hilger; Hoeltzenbein Maria
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.
American journal of medical genetics. Part A 2006;140(5):496-502.
2006: Poirier K; Lacombe D; Gilbert-Dussardier B; Raynaud M; Desportes V; de Brouwer A P M; Moraine C; Fryns J P; Ropers H H; Beldjord C; Chelly J; Bienvenu T
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics 2006;7(1):39-46.
2006: Tzschach A; Hoffmann K; Hoeltzenbein M; Bache I; Tommerup N; Bommer C; Körner H; Kalscheuer V; Ropers H H
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris.
Clinical genetics 2006;69(2):189-93.
2006: Lugtenberg Dorien; Yntema Helger G; Banning Martijn J G; Oudakker Astrid R; Firth Helen V; Willatt Lionel; Raynaud Martine; Kleefstra Tjitske; Fryns Jean-Pierre; Ropers Hans-Hilger; Chelly Jamel; Moraine Claude; Gecz Jozef; van Reeuwijk Jeroen; Nabuurs Sander B; de Vries Bert B A; Hamel Ben C J; de Brouwer Arjan P M; van Bokhoven Hans
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
American journal of human genetics 2006;78(2):265-78.
2006: Garshasbi Masoud; Motazacker Mohammad Mahdi; Kahrizi Kimia; Behjati Farkhondeh; Abedini Seyedeh Sedigheh; Nieh Sahar Esmaeeli; Firouzabadi Saghar Ghasemi; Becker Christian; Rüschendorf Franz; Nürnberg Peter; Tzschach Andreas; Vazifehmand Reza; Erdogan Fikret; Ullmann Reinhard; Lenzner Steffen; Kuss Andreas W; Ropers H Hilger; Najmabadi Hossein
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
Human genetics 2006;118(6):708-15.
2006: Dlugaszewska B; Silahtaroglu A; Menzel C; Kübart S; Cohen M; Mundlos S; Tümer Z; Kjaer K; Friedrich U; Ropers H-H; Tommerup N; Neitzel H; Kalscheuer V M
Breakpoints around the HOXD cluster result in various limb malformations.
Journal of medical genetics 2006;43(2):111-8.
2006: Hagens Olivier; Minina Eleonora; Schweiger Susann; Ropers Hans-Hilger; Kalscheuer Vera
Characterization of FBX25, encoding a novel brain-expressed F-box protein.
Biochimica et biophysica acta 2006;1760(1):110-8.
2006: Hagens Olivier; Dubos Aline; Abidi Fatima; Barbi Gotthold; Van Zutven Laura; Hoeltzenbein Maria; Tommerup Niels; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; van Bokhoven Hans; Gécz Jozef; Dollfus Hélène; Ropers Hans-Hilger; Schwartz Charles E; de Cassia Stocco Dos Santos Rita; Kalscheuer Vera; Hanauer André
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
Human genetics 2006;118(5):578-90.
2006: Shoichet Sarah A; Duprez Laurence; Hagens Olivier; Waetzig Vicki; Menzel Corinna; Herdegen Thomas; Schweiger Susann; Dan Bernard; Vamos Esther; Ropers Hans-Hilger; Kalscheuer Vera M
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy.
Human genetics 2006;118(5):559-67.
2006: Erdogan F; Chen W; Kirchhoff M; Kalscheuer V M; Hultschig C; Müller I; Schulz R; Menzel C; Bryndorf T; Ropers H-H; Ullmann R
Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation.
Cytogenetic and genome research 2006;115(3-4):247-53.
2005: Laumonnier F; Holbert S; Ronce N; Faravelli F; Lenzner S; Schwartz C E; Lespinasse J; Van Esch H; Lacombe D; Goizet C; Phan-Dinh Tuy F; van Bokhoven H; Fryns J-P; Chelly J; Ropers H-H; Moraine C; Hamel B C J; Briault S
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.
Journal of medical genetics 2005;42(10):780-6.
2005: Shoichet Sarah A; Kunde Stella-Amrei; Viertel Petra; Schell-Apacik Can; von Voss Hubertus; Tommerup Niels; Ropers Hans-Hilger; Kalscheuer Vera M
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Human genetics 2005;117(6):536-44.
2005: Nuber Ulrike A; Kriaucionis Skirmantas; Roloff Tim C; Guy Jacky; Selfridge Jim; Steinhoff Christine; Schulz Ralph; Lipkowitz Bettina; Ropers H Hilger; Holmes Megan C; Bird Adrian
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome.
Human molecular genetics 2005;14(15):2247-56.
2005: Borg Isabella; Freude Kristine; Kübart Sabine; Hoffmann Kirsten; Menzel Corinna; Laccone Franco; Firth Helen; Ferguson-Smith Malcolm A; Tommerup Niels; Ropers Hans-Hilger; Sargan David; Kalscheuer Vera M
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.
European journal of human genetics : EJHG 2005;13(8):921-7.
2005: Poirier Karine; Francis Fiona; Hamel Ben; Moraine Claude; Fryns Jean Pierre; Ropers Hans H; Chelly Jamel; Bienvenu Thierry
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
European journal of human genetics : EJHG 2005;13(5):523-4.
2005: Jensen Lars Riff; Amende Marion; Gurok Ulf; Moser Bettina; Gimmel Verena; Tzschach Andreas; Janecke Andreas R; Tariverdian Gholamali; Chelly Jamel; Fryns Jean-Pierre; Van Esch Hilde; Kleefstra Tjitske; Hamel Ben; Moraine Claude; Gecz Jozef; Turner Gillian; Reinhardt Richard; Kalscheuer Vera M; Ropers Hans-Hilger; Lenzner Steffen
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
American journal of human genetics 2005;76(2):227-36.
2005: Ropers H-Hilger; Hamel Ben C J
X-linked mental retardation.
Nature reviews. Genetics 2005;6(1):46-57.
2005: Chen Wei; Erdogan Fikret; Ropers H-Hilger; Lenzner Steffen; Ullmann Reinhard
CGHPRO -- a comprehensive data analysis tool for array CGH.
BMC bioinformatics 2005;6():85.
2004: Tao Jiong; Van Esch Hilde; Hagedorn-Greiwe M; Hoffmann Kirsten; Moser Bettina; Raynaud Martine; Sperner Jürgen; Fryns Jean-Pierre; Schwinger Eberhard; Gécz Jozef; Ropers Hans-Hilger; Kalscheuer Vera M
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation.
American journal of human genetics 2004;75(6):1149-54.
2004: Shi Wei; van den Hurk José A J M; Alamo-Bethencourt Victor; Mayer Wolfgang; Winkens Huub J; Ropers Hans-Hilger; Cremers Frans P M; Fundele Reinald
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues.
Developmental biology 2004;272(1):53-65.
2004: Freude Kristine; Hoffmann Kirsten; Jensen Lars-Riff; Delatycki Martin B; des Portes Vincent; Moser Bettina; Hamel Ben; van Bokhoven Hans; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; Gécz Jozef; Lenzner Steffen; Kalscheuer Vera M; Ropers Hans-Hilger
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.
American journal of human genetics 2004;75(2):305-9.
2004: Rosenberg Efraim H; Almeida Ligia S; Kleefstra Tjitske; deGrauw Rose S; Yntema Helger G; Bahi Nadia; Moraine Claude; Ropers Hans-Hilger; Fryns Jean-Pierre; deGrauw Ton J; Jakobs Cornelis; Salomons Gajja S
High prevalence of SLC6A8 deficiency in X-linked mental retardation.
American journal of human genetics 2004;75(1):97-105.
2004: Gurok Ulf; Steinhoff Christine; Lipkowitz Bettina; Ropers H-Hilger; Scharff Constance; Nuber Ulrike A
Gene expression changes in the course of neural progenitor cell differentiation.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(26):5982-6002.
2004: Musante Luciana; Bartsch Oliver; Ropers Hans-Hilger; Kalscheuer Vera M
cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2.
Gene 2004;332():119-27.
2004: Kleefstra T; Yntema H G; Oudakker A R; Banning M J G; Kalscheuer V M; Chelly J; Moraine C; Ropers H-H; Fryns J-P; Janssen I M; Sistermans E A; Nillesen W N; de Vries L B A; Hamel B C J; van Bokhoven H
Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation.
Journal of medical genetics 2004;41(5):394-9.
2004: Singh Umashankar; Fohn Laurel E; Wakayama Teruhiko; Ohgane Jun; Steinhoff Christine; Lipkowitz Bettina; Schulz Ralph; Orth Annie; Ropers H Hilger; Behringer Richard R; Tanaka Satoshi; Shiota Kunio; Yanagimachi Ryuzo; Nuber Ulrike A; Fundele Reinald
Different molecular mechanisms underlie placental overgrowth phenotypes caused by interspecies hybridization, cloning, and Esx1 mutation.
Developmental dynamics : an official publication of the American Association of Anatomists 2004;230(1):149-64.
2004: Zechner U; Shi W; Hemberger M; Himmelbauer H; Otto S; Orth A; Kalscheuer V; Fischer U; Elango R; Reis A; Vogel W; Ropers H; Rüschendorf F; Fundele R
Divergent genetic and epigenetic post-zygotic isolation mechanisms in Mus and Peromyscus.
Journal of evolutionary biology 2004;17(2):453-60.
2004: Hertz J M; Sivertsen B; Silahtaroglu A; Bugge M; Kalscheuer V; Weber A; Wirth J; Ropers H-H; Tommerup N; Tümer Z
Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13).
Journal of medical genetics 2004;41(3):e25.
2004: Laumonnier Frédéric; Bonnet-Brilhault Frédérique; Gomot Marie; Blanc Romuald; David Albert; Moizard Marie-Pierre; Raynaud Martine; Ronce Nathalie; Lemonnier Eric; Calvas Patrick; Laudier Béatrice; Chelly Jamel; Fryns Jean-Pierre; Ropers Hans-Hilger; Hamel Ben C J; Andres Christian; Barthélémy Catherine; Moraine Claude; Briault Sylvain
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
American journal of human genetics 2004;74(3):552-7.
2003: Shoichet Sarah A; Hoffmann Kirsten; Menzel Corinna; Trautmann Udo; Moser Bettina; Hoeltzenbein Maria; Echenne Bernard; Partington Michael; Van Bokhoven Hans; Moraine Claude; Fryns Jean-Pierre; Chelly Jamel; Rott Hans-Dieter; Ropers Hans-Hilger; Kalscheuer Vera M
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
American journal of human genetics 2003;73(6):1341-54.
2003: van den Hurk José A J M; van de Pol Dorien J R; Wissinger Bernd; van Driel Marc A; Hoefsloot Lies H; de Wijs Ilse J; van den Born L Ingeborgh; Heckenlively John R; Brunner Han G; Zrenner Eberhart; Ropers Hans-Hilger; Cremers Frans P M
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: Ropers Hans-Hilger; Hoeltzenbein Maria; Kalscheuer Vera; Yntema Helger; Hamel Ben; Fryns Jean-Pierre; Chelly Jamel; Partington Michael; Gecz Jozef; Moraine Claude
Nonsyndromic X-linked mental retardation: where are the missing mutations?
Trends in genetics : TIG 2003;19(6):316-20.
2003: Frints Suzanna G M; Jun Lin; Fryns Jean-Pierre; Devriendt Koen; Teulingkx Rudi; Van den Berghe Lut; De Vos Bernice; Borghgraef Martine; Chelly Jamel; Des Portes Vincent; Van Bokhoven Hans; Hamel Ben; Ropers Hans-Hilger; Kalscheuer Vera; Raynaud Martine; Moraine Claude; Marynen Peter; Froyen Guy
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.
American journal of medical genetics. Part A 2003;119A(3):367-74.
2003: Kalscheuer Vera M; Tao Jiong; Donnelly Andrew; Hollway Georgina; Schwinger Eberhard; Kübart Sabine; Menzel Corinna; Hoeltzenbein Maria; Tommerup Niels; Eyre Helen; Harbord Michael; Haan Eric; Sutherland Grant R; Ropers Hans-Hilger; Gécz Jozef
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
American journal of human genetics 2003;72(6):1401-11.
2003: Bienvenu T; Poirier K; Van Esch H; Hamel B; Moraine C; Fryns J P; Ropers H H; Beldjord C; Yntema H G; Chelly J
Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation.
Journal of medical genetics 2003;40(5):357-9.
2003: Herr Alexander; Meunier Dominique; Müller Ines; Rump Andreas; Fundele Reinald; Ropers H-Hilger; Nuber Ulrike A
Expression of mouse Tbx22 supports its role in palatogenesis and glossogenesis.
Developmental dynamics : an official publication of the American Association of Anatomists 2003;226(4):579-86.
2003: Winter Jennifer; Lehmann Tanja; Suckow Vanessa; Kijas Zofia; Kulozik Andreas; Kalscheuer Vera; Hamel Ben; Devriendt Koen; Opitz John; Lenzner Steffen; Ropers Hans-Hilger; Schweiger Susann
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Human genetics 2003;112(3):249-54.
2003: Musante Luciana; Kehl Hans G; Majewski Frank; Meinecke Peter; Schweiger Susann; Gillessen-Kaesbach Gabriele; Wieczorek Dagmar; Hinkel Georg K; Tinschert Sigrid; Hoeltzenbein Maria; Ropers Hans-Hilger; Kalscheuer Vera M
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.
European journal of human genetics : EJHG 2003;11(2):201-6.
2003: Wieczorek Georg; Steinhoff Christine; Schulz Ralph; Scheller Marina; Vingron Martin; Ropers H-Hilger; Nuber Ulrike A
Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis.
Cell and tissue research 2003;311(2):227-37.
2003: Roloff Tim C; Ropers H Hilger; Nuber Ulrike A
Comparative study of methyl-CpG-binding domain proteins.
BMC genomics 2003;4(1):1.
2002: Grützner Frank; Roest Crollius Hugues; Lütjens Götz; Jaillon Olivier; Weissenbach Jean; Ropers Hans-Hilger; Haaf Thomas
Four-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomes.
Genome research 2002;12(9):1316-22.
2002: Lenzner Steffen; Prietz Sandra; Feil Silke; Nuber Ulrike A; Ropers H-Hilger; Berger Wolfgang
Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells.
Investigative ophthalmology & visual science 2002;43(9):2825-33.
2002: Borg I; Squire M; Menzel C; Stout K; Morgan D; Willatt L; O'Brien P C M; Ferguson-Smith M A; Ropers H H; Tommerup N; Kalscheuer V M; Sargan D R
A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation.
Journal of medical genetics 2002;39(6):391-9.
2002: Tümer Zeynep; Croucher Peter J P; Jensen Lars Riff; Hampe Jochen; Hansen Claus; Kalscheuer Vera; Ropers Hans Hilger; Tommerup Niels; Schreiber Stefan
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2).
Gene 2002;288(1-2):179-85.
2002: Meloni Ilaria; Muscettola Maddalena; Raynaud Martine; Longo Ilaria; Bruttini Mirella; Moizard Marie-Pierre; Gomot Marie; Chelly Jamel; des Portes Vincent; Fryns Jean-Pierre; Ropers Hans-Hilger; Magi Barbara; Bellan Cristina; Volpi Nila; Yntema Helger G; Lewis Sarah E; Schaffer Jean E; Renieri Alessandra
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
Nature genetics 2002;30(4):436-40.
2002: Raderschall Elke; Bazarov Alex; Cao Jiangping; Lurz Rudi; Smith Avril; Mann Wolfgang; Ropers Hans-Hilger; Sedivy John M; Golub Efim I; Fritz Eberhard; Haaf Thomas
Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosis.
Journal of cell science 2002;115(Pt 1):153-64.
2001: Trockenbacher A; Suckow V; Foerster J; Winter J; Krauss S; Ropers H H; Schneider R; Schweiger S
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.
Nature genetics 2001;29(3):287-94.
2001: Kirschner R; Erturk D; Zeitz C; Sahin S; Ramser J; Cremers F P; Ropers H H; Berger W
DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements.
Human genetics 2001;109(3):271-8.
2001: Brunner B; Hornung U; Shan Z; Nanda I; Kondo M; Zend-Ajusch E; Haaf T; Ropers H H; Shima A; Schmid M; Kalscheuer V M; Schartl M
Genomic organization and expression of the doublesex-related gene cluster in vertebrates and detection of putative regulatory regions for DMRT1.
Genomics 2001;77(1-2):8-17.
2001: Couvert P; Bienvenu T; Aquaviva C; Poirier K; Moraine C; Gendrot C; Verloes A; Andrès C; Le Fevre A C; Souville I; Steffann J; des Portes V; Ropers H H; Yntema H G; Fryns J P; Briault S; Chelly J; Cherif B
MECP2 is highly mutated in X-linked mental retardation.
Human molecular genetics 2001;10(9):941-6.
2001: Nothwang H G; Kim H G; Aoki J; Geisterfer M; Kübart S; Wegner R D; van Moers A; Ashworth L K; Haaf T; Bell J; Arai H; Tommerup N; Ropers H H; Wirth J
Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.
Human molecular genetics 2001;10(8):797-806.
2001: Erdogan F; Kirchner R; Mann W; Ropers H H; Nuber U A
Detection of mitochondrial single nucleotide polymorphisms using a primer elongation reaction on oligonucleotide microarrays.
Nucleic acids research 2001;29(7):E36.
2001: Borck G; Wirth J; Hardt T; Tönnies H; Brøndum-Nielsen K; Bugge M; Tommerup N; Nothwang H G; Ropers H H; Haaf T
Molecular cytogenetic characterisation of a complex 46,XY,t(7;8;11;13) chromosome rearrangement in a patient with Moebius syndrome.
Journal of medical genetics 2001;38(2):117-21.
2001: Mergenthaler S; Hitchins M P; Blagitko-Dorfs N; Monk D; Wollmann H A; Ranke M B; Ropers H H; Apostolidou S; Stanier P; Preece M A; Eggermann T; Kalscheuer V M; Moore G E
Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression?
American journal of human genetics 2001;68(2):543-5.
2001: Wirth J; Back E; Hüttenhofer A; Nothwang H G; Lich C; Gross S; Menzel C; Schinzel A; Kioschis P; Tommerup N; Ropers H H; Horsthemke B; Buiting K
A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.
Human molecular genetics 2001;10(3):201-10.
2001: Sudbrak R; Wieczorek G; Nuber U A; Mann W; Kirchner R; Erdogan F; Brown C J; Wöhrle D; Sterk P; Kalscheuer V M; Berger W; Lehrach H; Ropers H H
X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.
Human molecular genetics 2001;10(1):77-83.
2000: Schröer A; Scheer M P; Zacharias S; Schneider S; Ropers H H; Nothwang H G; Chelly J; Hamel B; Fryns J P; Shaw P; Moraine C
Cosegregation of T108A Elk-1 with mental retardation.
American journal of medical genetics 2000;95(4):404-5.
2000: Fryns J P; Borghgraef M; Brown T W; Chelly J; Fisch G S; Hamel B; Hanauer A; Lacombe D; Luo L; MacPherson J N; Mandel J L; Moraine C; Mulley J; Nelson D; Oostra B; Partington M; Ramakers G J; Ropers H H; Rousseau F; Schwartz C; Steinbach P; Stoll C; Tranebjaerg L; Turner G; Van Bokhoven H; Vianna-Morgante A
9th international workshop on fragile X syndrome and X-linked mental retardation.
American journal of medical genetics 2000;94(5):345-60.
2000: Roepman R; Bernoud-Hubac N; Schick D E; Maugeri A; Berger W; Ropers H H; Cremers F P; Ferreira P A
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.
Human molecular genetics 2000;9(14):2095-105.
2000: Bienvenu T; des Portes V; McDonell N; Carrié A; Zemni R; Couvert P; Ropers H H; Moraine C; van Bokhoven H; Fryns J P; Allen K; Walsh C A; Boué J; Kahn A; Chelly J; Beldjord C
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
American journal of medical genetics 2000;93(4):294-8.
2000: Mergenthaler S; Blagitko-Dorfs N; Wollmann H A; Ranke M B; Ropers H H; Kalscheuer V M; Eggermann T
Identification of two new polymorphisms (c2447-125A>G; c2532G>A) in the gamma 2-COP (COPG2) gene by screening of Silver-Russell syndrome patients.
Human mutation 2000;16(1):96.
2000: Blagitko N; Mergenthaler S; Schulz U; Wollmann H A; Craigen W; Eggermann T; Ropers H H; Kalscheuer V M
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.
Human molecular genetics 2000;9(11):1587-95.
2000: Thiesen S; Kübart S; Ropers H H; Nothwang H G
Isolation of two novel human RhoGEFs, ARHGEF3 and ARHGEF4, in 3p13-21 and 2q22.
Biochemical and biophysical research communications 2000;273(1):364-9.
2000: Zemni R; Bienvenu T; Vinet M C; Sefiani A; Carrié A; Billuart P; McDonell N; Couvert P; Francis F; Chafey P; Fauchereau F; Friocourt G; des Portes V; Cardona A; Frints S; Meindl A; Brandau O; Ronce N; Moraine C; van Bokhoven H; Ropers H H; Sudbrak R; Kahn A; Fryns J P; Beldjord C; Chelly J
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Nature genetics 2000;24(2):167-70.
2000: Scheer M P; van der Maarel S; Kübart S; Schulz A; Wirth J; Schweiger S; Ropers H; Nothwang H G
DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.
Genomics 2000;63(1):123-32.
2000: Nothwang H G; Schröer A; van der Maarel S; Kübart S; Schneider S; Riesselmann L; Menzel C; Hinzmann B; Vogt D; Rosenthal A; Fryns J; Tommerup N; Haaf T; Ropers H H; Wirth J
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.
Cytogenetics and cell genetics 2000;90(1-2):126-33.
2000: Cremers F P; Cremers C W; Ropers H H
The ins and outs of X-linked deafness type 3.
Advances in oto-rhino-laryngology 2000;56():184-95.
1999: Yntema H G; van den Helm B; Kissing J; van Duijnhoven G; Poppelaars F; Chelly J; Moraine C; Fryns J P; Hamel B C; Heilbronner H; Pander H J; Brunner H G; Ropers H H; Cremers F P; van Bokhoven H
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: Blagitko N; Schulz U; Schinzel A A; Ropers H H; Kalscheuer V M
gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.
Human molecular genetics 1999;8(13):2387-96.
1999: Carrié A; Jun L; Bienvenu T; Vinet M C; McDonell N; Couvert P; Zemni R; Cardona A; Van Buggenhout G; Frints S; Hamel B; Moraine C; Ropers H H; Strom T; Howell G R; Whittaker A; Ross M T; Kahn A; Fryns J P; Beldjord C; Marynen P; Chelly J
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Nature genetics 1999;23(1):25-31.
1999: Kirschner R; Rosenberg T; Schultz-Heienbrok R; Lenzner S; Feil S; Roepman R; Cremers F P; Ropers H H; Berger W
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.
Human molecular genetics 1999;8(8):1571-8.
1999: Yntema H G; van den Helm B; Knoers N V; Smits A P; van Roosmalen T; Smeets D F; Mariman E C; van der Burgt I; van Bokhoven H; Ropers H H; Kremer H; Hamel B C
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.
American journal of medical genetics 1999;85(3):305-8.
1999: Hamel B C; Smits A P; van den Helm B; Smeets D F; Knoers N V; van Roosmalen T; Thoonen G H; Assman-Hulsmans C F; Ropers H H; Mariman E C; Kremer H
Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.
American journal of medical genetics 1999;85(3):290-304.
1999: des Portes V; Beldjord C; Chelly J; Hamel B; Kremer H; Smits A; van Bokhoven H; Ropers H H; Claes S; Fryns J P; Ronce N; Gendrot C; Toutain A; Raynaud M; Moraine C
X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.
American journal of medical genetics 1999;85(3):263-5.
1999: Siderius L E; Hamel B C; van Bokhoven H; de Jager F; van den Helm B; Kremer H; Heineman-de Boer J A; Ropers H H; Mariman E C
X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.
American journal of medical genetics 1999;85(3):216-20.
1999: Brunner B; Todt T; Lenzner S; Stout K; Schulz U; Ropers H H; Kalscheuer V M
Genomic structure and comparative analysis of nine Fugu genes: conservation of synteny with human chromosome Xp22.2-p22.1.
Genome research 1999;9(5):437-48.
1999: Wirth J; Nothwang H G; van der Maarel S; Menzel C; Borck G; Lopez-Pajares I; Brøndum-Nielsen K; Tommerup N; Bugge M; Ropers H H; Haaf T
Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.
Journal of medical genetics 1999;36(4):271-8.
1999: Schweiger S; Foerster J; Lehmann T; Suckow V; Muller Y A; Walter G; Davies T; Porter H; van Bokhoven H; Lunt P W; Traub P; Ropers H H
The Opitz syndrome gene product, MID1, associates with microtubules.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(6):2794-9.
1999: Hamel B C; Wesseling P; Renier W O; van den Helm B; Ropers H H; Kremer H; Mariman E C
A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region.
Journal of medical genetics 1999;36(2):140-3.
1999: Grützner F; Himmelbauer H; Paulsen M; Ropers H H; Haaf T
Comparative mapping of mouse and rat chromosomes by fluorescence in situ hybridization.
Genomics 1999;55(3):306-13.
1999: Grützner F; Lütjens G; Rovira C; Barnes D W; Ropers H H; Haaf T
Classical and molecular cytogenetics of the pufferfish Tetraodon nigroviridis.
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1999;7(8):655-62.
1999: Hardt T; Himmelbauer H; Mann W; Ropers H; Haaf T
Towards identification of individual homologous chromosomes: comparative genomic hybridization and spectral karyotyping discriminate between paternal and maternal euchromatin in Mus musculus x M. spretus interspecific hybrids.
Cytogenetics and cell genetics 1999;86(3-4):187-93.
1999: Stout K; van der Maarel S; Frants R R; Padberg G W; Ropers H H; Haaf T
Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?
Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1999;7(5):323-9.
1998: Yntema H G; Hamel B C; Smits A P; van Roosmalen T; van den Helm B; Kremer H; Ropers H H; Smeets D F; van Bokhoven H
Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.
Journal of medical genetics 1998;35(10):801-5.
1998: Schwahn U; Lenzner S; Dong J; Feil S; Hinzmann B; van Duijnhoven G; Kirschner R; Hemberger M; Bergen A A; Rosenberg T; Pinckers A J; Fundele R; Rosenthal A; Cremers F P; Ropers H H; Berger W
Positional cloning of the gene for X-linked retinitis pigmentosa 2.
Nature genetics 1998;19(4):327-32.
1998: Bienvenu T; des Portes V; Saint Martin A; McDonell N; Billuart P; Carrié A; Vinet M C; Couvert P; Toniolo D; Ropers H H; Moraine C; van Bokhoven H; Fryns J P; Kahn A; Beldjord C; Chelly J
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
Human molecular genetics 1998;7(8):1311-5.
1998: Riesewijk A M; Xu Y Q; Schepens M T; Mariman E M; Polychronakos C; Ropers H H; Kalscheuer V M
Absence of an obvious molecular imprinting mechanism in a human fetus with monoallelic IGF2R expression.
Biochemical and biophysical research communications 1998;245(1):272-7.
1998: Riesewijk A M; Blagitko N; Schinzel A A; Hu L; Schulz U; Hamel B C; Ropers H H; Kalscheuer V M
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
European journal of human genetics : EJHG 1998;6(2):114-20.
1997: Quaderi N A; Schweiger S; Gaudenz K; Franco B; Rugarli E I; Berger W; Feldman G J; Volta M; Andolfi G; Gilgenkrantz S; Marion R W; Hennekam R C; Opitz J M; Muenke M; Ropers H H; Ballabio A
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
Nature genetics 1997;17(3):285-91.
1997: Riesewijk A M; Hu L; Schulz U; Tariverdian G; Höglund P; Kere J; Ropers H H; Kalscheuer V M
Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses.
Genomics 1997;42(2):236-44.
1997: van den Hurk J A; Hendriks W; van de Pol D J; Oerlemans F; Jaissle G; Rüther K; Kohler K; Hartmann J; Zrenner E; van Bokhoven H; Wieringa B; Ropers H H; Cremers F P
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline.
Human molecular genetics 1997;6(6):851-8.
1997: Nothwang H G; Wirth J; Brandl B; Haaf T; Nielsen K B; Tommerup N; Ropers H H
Identification of positional candidates for neurological disorders on chromsome 13q14-->q22.
Cytogenetics and cell genetics 1997;79(3-4):293-7.
1997: Kingsley K; Wirth J; van der Maarel S; Freier S; Ropers H H; Haaf T
Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes.
Cytogenetics and cell genetics 1997;78(1):12-9.
1997: de Kok Y J; Cremers C W; Ropers H H; Cremers F P
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation.
Human mutation 1997;10(3):207-11.
1997: van den Hurk J A; Schwartz M; van Bokhoven H; van de Pol T J; Bogerd L; Pinckers A J; Bleeker-Wagemakers E M; Pawlowitzki I H; Rüther K; Ropers H H; Cremers F P
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.
Human mutation 1997;9(2):110-7.
1996: Kremer H; Hamel B C; van den Helm B; Arts W F; de Wijs I J; Sistermans E A; Ropers H H; Mariman E C
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.
Human genetics 1996;98(5):513-7.
1996: Van Bokhoven H; Van den Hurk J A; Bogerd L; Van de Pol D J; Ropers H H; Cremers F P
A highly polymorphic microsatellite marker located within the choroideremia gene.
Ophthalmic genetics 1996;17(3):119-21.
1996: de Kok Y J; Vossenaar E R; Cremers C W; Dahl N; Laporte J; Hu L J; Lacombe D; Fischel-Ghodsian N; Friedman R A; Parnes L S; Thorpe P; Bitner-Glindzicz M; Pander H J; Heilbronner H; Graveline J; den Dunnen J T; Brunner H G; Ropers H H; Cremers F P
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: Hamel B C; Kremer H; Wesby-van Swaay E; van den Helm B; Smits A P; Oostra B A; Ropers H H; Mariman E C
A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.
American journal of medical genetics 1996;64(1):131-3.
1996: Hamel B C; Smits A P; Otten B J; van den Helm B; Ropers H H; Mariman E C
Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings.
American journal of medical genetics 1996;64(1):35-41.
1996: Roepman R; van Duijnhoven G; Rosenberg T; Pinckers A J; Bleeker-Wagemakers L M; Bergen A A; Post J; Beck A; Reinhardt R; Ropers H H; Cremers F P; Berger W
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.
Human molecular genetics 1996;5(7):1035-41.
1996: van der Maarel S M; Scholten I H; Huber I; Philippe C; Suijkerbuijk R F; Gilgenkrantz S; Kere J; Cremers F P; Ropers H H
Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1.
Human molecular genetics 1996;5(7):887-97.
1996: Riesewijk A M; Schepens M T; Mariman E M; Ropers H H; Kalscheuer V M
The MAS proto-oncogene is not imprinted in humans.
Genomics 1996;35(2):380-2.
1996: Roepman R; Bauer D; Rosenberg T; van Duijnhoven G; van de Vosse E; Platzer M; Rosenthal A; Ropers H H; Cremers F P; Berger W
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).
Human molecular genetics 1996;5(6):827-33.
1996: Nelen M R; Padberg G W; Peeters E A; Lin A Y; van den Helm B; Frants R R; Coulon V; Goldstein A M; van Reen M M; Easton D F; Eeles R A; Hodgsen S; Mulvihill J J; Murday V A; Tucker M A; Mariman E C; Starink T M; Ponder B A; Ropers H H; Kremer H; Longy M; Eng C
Localization of the gene for Cowden disease to chromosome 10q22-23.
Nature genetics 1996;13(1):114-6.
1996: Riesewijk A M; Schepens M T; Welch T R; van den Berg-Loonen E M; Mariman E M; Ropers H H; Kalscheuer V M
Maternal-specific methylation of the human IGF2R gene is not accompanied by allele-specific transcription.
Genomics 1996;31(2):158-66.
1996: Berger W; van de Pol D; Bächner D; Oerlemans F; Winkens H; Hameister H; Wieringa B; Hendriks W; Ropers H H
An animal model for Norrie disease (ND): gene targeting of the mouse ND gene.
Human molecular genetics 1996;5(1):51-9.
1995: de Kok Y J; Merkx G F; van der Maarel S M; Huber I; Malcolm S; Ropers H H; Cremers F P
A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene.
Human molecular genetics 1995;4(11):2145-50.
1995: Bitner-Glindzicz M; Turnpenny P; Höglund P; Kääriäinen H; Sankila E M; van der Maarel S M; de Kok Y J; Ropers H H; Cremers F P; Pembrey M
Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.
Human molecular genetics 1995;4(8):1467-9.
1995: Philippe C; Arnould C; Sloan F; van Bokhoven H; van der Velde-Visser S D; Chery M; Ropers H H; Gilgenkrantz S; Monaco A P; Cremers F P
A high-resolution interval map of the q21 region of the human X chromosome.
Genomics 1995;27(3):539-43.
1995: Cremers F P; Bitner-Glindzicz M; Pembrey M E; Ropers H H
Mapping and cloning hereditary deafness genes.
Current opinion in genetics & development 1995;5(3):371-5.
1995: Hamel B C; Draaisma J M; Pinckers A J; Boetes C; Hoppe R L; Ropers H H; Brunner H G
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report.
American journal of medical genetics 1995;56(3):312-6.
1995: Vikkula M; Mariman E C; Lui V C; Zhidkova N I; Tiller G E; Goldring M B; van Beersum S E; de Waal Malefijt M C; van den Hoogen F H; Ropers H H
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.
Cell 1995;80(3):431-7.
1995: de Kok Y J; van der Maarel S M; Bitner-Glindzicz M; Huber I; Monaco A P; Malcolm S; Pembrey M E; Ropers H H; Cremers F P
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Science (New York, N.Y.) 1995;267(5198):685-8.
1995: Kremer H; Kraaij R; Toledo S P; Post M; Fridman J B; Hayashida C Y; van Reen M; Milgrom E; Ropers H H; Mariman E
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene.
Nature genetics 1995;9(2):160-4.
1995: Berger W; van Duijnhoven G; Pinckers A; Smits A; Ropers H H; Cremers F
Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).
Human genetics 1995;95(1):67-70.
1995: Mariman E C; van Beersum S E; Cremers C W; Struycken P M; Ropers H H
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.
Human genetics 1995;95(1):56-62.
1994: Bitner-Glindzicz M; de Kok Y; Summers D; Huber I; Cremers F P; Ropers H H; Reardon W; Pembrey M E; Malcolm S
Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.
Journal of medical genetics 1994;31(12):916-21.
1994: Mariman E C; Gabreëls-Festen A A; van Beersum S E; Valentijn L J; Baas F; Bolhuis P A; Jongen P J; Ropers H H; Gabreëls F J
Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies.
Annals of neurology 1994;36(4):650-5.
1994: Brunner H G; van Beersum S E; Warman M L; Olsen B R; Ropers H H; Mariman E C
A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene.
Human molecular genetics 1994;3(9):1561-4.
1994: van Bokhoven H; van Genderen C; Ropers H H; Cremers F P
Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2.
Human molecular genetics 1994;3(8):1446.
1994: van Bokhoven H; van den Hurk J A; Bogerd L; Philippe C; Gilgenkrantz S; de Jong P; Ropers H H; Cremers F P
Cloning and characterization of the human choroideremia gene.
Human molecular genetics 1994;3(7):1041-6.
1994: Hamel B C; Mariman E C; van Beersum S E; Schoonbrood-Lenssen A M; Ropers H H
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies.
American journal of medical genetics 1994;51(4):591-7.
1994: de Leeuw B; Balemans M; Weghuis D O; Seruca R; Janz M; Geraghty M T; Gilgenkrantz S; Ropers H H; Geurts van Kessel A
Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint.
Human molecular genetics 1994;3(5):745-9.
1994: Mariman E C; Gabreëls-Festen A A; van Beersum S E; Jongen P J; van de Looij E; Baas F; Bolhuis P A; Ropers H H; Gabreëls F J
Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.
Human genetics 1994;93(2):151-6.
1994: Kremer H; Pinckers A; van den Helm B; Deutman A F; Ropers H H; Mariman E C
Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.
Human molecular genetics 1994;3(2):299-302.
1994: Röhme D; Sidén T; van der Maarel S M; Cremers F P; Tantravahi U; Marinoni J C; Ropers H H; Schwartz C E
Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1.
Somatic cell and molecular genetics 1994;20(1):1-10.
1994: von Bokhoven H; von Genderen C; Molloy C M; van de Pol D J; Cremers C W; von Aarem A; Schwartz M; Rosenberg T; Geurts van Kessel A H; Ropers H H
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II.
Genomics 1994;19(2):385-7.
1993: Kremer H; Mariman E; Otten B J; Moll G W; Stoelinga G B; Wit J M; Jansen M; Drop S L; Faas B; Ropers H H
Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.
Human molecular genetics 1993;2(11):1779-83.
1993: Sinke R J; de Leeuw B; Janssen H A; Weghuis D O; Suijkerbuijk R F; Meloni A M; Gilgenkrantz S; Berger W; Ropers H H; Sandberg A A
Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints.
Human genetics 1993;92(3):305-8.
1993: Brunner H G; Nelen M; Breakefield X O; Ropers H H; van Oost B A
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: Kalscheuer V M; Mariman E C; Schepens M T; Rehder H; Ropers H H
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans.
Nature genetics 1993;5(1):74-8.
1993: Jansen G; Bartolomei M; Kalscheuer V; Merkx G; Wormskamp N; Mariman E; Smeets D; Ropers H H; Wieringa B
No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues.
Human molecular genetics 1993;2(8):1221-7.
1993: Mariman E C; Gabreëls-Festen A A; van Beersum S E; Jongen P J; Ropers H H; Gabreëls F J
Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.
Human genetics 1993;92(1):87-90.
1993: Philippe C; Cremers F P; Chery M; Bach I; Abbadi N; Ropers H H; Gilgenkrantz S
Physical mapping of DNA markers in the q13-q22 region of the human X chromosome.
Genomics 1993;17(1):147-52.
1993: Brunner H G; Nelen M R; van Zandvoort P; Abeling N G; van Gennip A H; Wolters E C; Kuiper M A; Ropers H H; van Oost B A
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: Mariman E C; van Beersum S E; Cremers C W; van Baars F M; Ropers H H
Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q.
Human genetics 1993;91(4):357-61.
1993: de Vries D D; de Wijs I J; Wolff G; Ketelsen U P; Ropers H H; van Oost B A
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder.
Human genetics 1993;91(1):51-4.
1993: de Leeuw B; Berger W; Sinke R J; Suijkerbuijk R F; Gilgenkrantz S; Geraghty M T; Valle D; Monaco A P; Lehrach H; Ropers H H
Identification of a yeast artificial chromosome (YAC) spanning the synovial sarcoma-specific t(X;18)(p11.2;q11.2) breakpoint.
Genes, chromosomes & cancer 1993;6(3):182-9.
1993: Brunner H G; Jansen G; Nillesen W; Nelen M R; de Die C E; Höweler C J; van Oost B A; Wieringa B; Ropers H H; Smeets H J
Brief report: reverse mutation in myotonic dystrophy.
The New England journal of medicine 1993;328(7):476-80.
1992: Brunner H G; Nillesen W; van Oost B A; Jansen G; Wieringa B; Ropers H H; Smeets H J
Presymptomatic diagnosis of myotonic dystrophy.
Journal of medical genetics 1992;29(11):780-4.
1992: Berger W; van de Pol D; Warburg M; Gal A; Bleeker-Wagemakers L; de Silva H; Meindl A; Meitinger T; Cremers F; Ropers H H
Mutations in the candidate gene for Norrie disease.
Human molecular genetics 1992;1(7):461-5.
1992: Berger W; Meindl A; van de Pol T J; Cremers F P; Ropers H H; Döerner C; Monaco A; Bergen A A; Lebo R; Warburgh M
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;2(1):84.
1992: Bach I; Robinson D; Thomas N; Ropers H H; Cremers F P
Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21.
Human genetics 1992;89(6):620-4.
1992: Traupe H; Müller D; Atherton D; Kalter D C; Cremers F P; van Oost B A; Ropers H H
Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.
Human genetics 1992;89(6):659-65.
1992: van den Ouweland A M; Knoop M T; Knoers V V; Markslag P W; Rocchi M; Warren S T; Ropers H H; Fahrenholz F; Monnens L A; van Oost B A
Colocalization of the gene for nephrogenic diabetes insipidus (DIR) and the vasopressin type 2 receptor gene (AVPR2) in the Xq28 region.
Genomics 1992;13(4):1350-2.
1992: Smeets H J; Melenhorst J J; Lemmink H H; Schröder C H; Nelen M R; Zhou J; Hostikka S L; Tryggvason K; Ropers H H; Jansweijer M C
Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
Kidney international 1992;42(1):83-8.
1992: Traupe H; van den Ouweland A M; van Oost B A; Vogel W; Vetter U; Warren S T; Rocchi M; Darlison M G; Ropers H H
Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel.
Genomics 1992;13(2):481-3.
1992: Berger W; Meindl A; van de Pol T J; Cremers F P; Ropers H H; Döerner C; Monaco A; Bergen A A; Lebo R; Warburg M
Isolation of a candidate gene for Norrie disease by positional cloning.
Nature genetics 1992;1(3):199-203.
1992: Cremers F P; Molloy C M; van de Pol D J; van den Hurk J A; Bach I; Geurts van Kessel A H; Ropers H H
An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.
Human molecular genetics 1992;1(2):71-5.
1992: Smeets D F; Hamel B C; Nelen M R; Smeets H J; Bollen J H; Smits A P; Ropers H H; van Oost B A
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.
The New England journal of medicine 1992;326(12):807-11.
1992: Molloy C M; van de Pol T J; Brohet R M; Ropers H H; Cremers F P
Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2.
Nucleic acids research 1992;20(6):1434.
1992: Ropers H H; Pericak-Vance M A; Carrano A V
Report of the Second International Workshop on Human Chromosome 19 mapping 1992.
Cytogenetics and cell genetics 1992;60(2):87-95.
1991: Smeets H J; Hermens R; Brunner H G; Ropers H H; Wieringa B
Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus.
Genomics 1991;9(2):257-63.
1991: van Oost B A; van Zandvoort P M; Tünte W; Brunner H G; Hoogeboom A J; Maaswinkel-Mooy P D; Bakkeren J; Hamel B; Ropers H H
Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.
Human genetics 1991;86(4):404-7.
1991: Brunner H G; Spaans F; Smeets H J; Coerwinkel-Driessen M; Hulsebos T; Wieringa B; Ropers H H
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: Brunner H G; Smeets B; Smeets D; Nelen M; Cremers C W; Ropers H H
Molecular genetics of X-linked hearing impairment.
Annals of the New York Academy of Sciences 1991;630():176-90.
1990: Cremers F P; Brunsmann F; Berger W; van Kerkhoff E P; van de Pol T J; Wieringa B; Pawlowitzki I H; Ropers H H
Cloning of the breakpoints of a deletion associated with choroidermia.
Human genetics 1990;86(1):61-4.
1990: Cremers F P; van de Pol D J; van Kerkhoff L P; Wieringa B; Ropers H H
Cloning of a gene that is rearranged in patients with choroideraemia.
Nature 1990;347(6294):674-7.
1990: van Zandvoort P M; van Bennekom C A; Ropers H H; van Oost B A
An NcoI restriction fragment length polymorphism at the human steroid sulphatase gene locus.
Human genetics 1990;84(5):489-90.
1990: van de Pol T J; Cremers F P; Brohet R M; Wieringa B; Ropers H H
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis.
Nucleic acids research 1990;18(4):725-31.
1989: Diergaarde P J; Wieringa B; Bleeker-Wagemakers E M; Sims K B; Breakefield X O; Ropers H H
Physical fine-mapping of a deletion spanning the Norrie gene.
Human genetics 1989;84(1):22-6.
1989: Cremers F P; van de Pol D J; Wieringa B; Collins F S; Sankila E M; Siu V M; Flintoff W F; Brunsmann F; Blonden L A; Ropers H H
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia.
Proceedings of the National Academy of Sciences of the United States of America 1989;86(19):7510-4.
1989: Brunner H G; Smeets H; Lambermon H M; Coerwinkel-Driessen M; van Oost B A; Wieringa B; Ropers H H
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19.
Genomics 1989;5(3):589-95.
1989: Smeets H J; Brunner H G; Ropers H H; Wieringa B
Use of variable simple sequence motifs as genetic markers: application to study of myotonic dystrophy.
Human genetics 1989;83(3):245-51.
1989: Diergaarde P J; van de Pol D; Schmeckpeper B J; Ropers H H
An EcoRV RFLP detected by probe pX59 [DXS77]
Nucleic acids research 1989;17(16):6755.
1989: Ropers H H; Wieringa B
The recombinant DNA revolution: implications for diagnosis and prevention of inherited disease.
European journal of obstetrics, gynecology, and reproductive biology 1989;32(1):15-23.
1989: Smeets H; Coerwinkel M; Schepens J; Brunner H; Schonk D; Ropers H H; Wieringa B
EcoRI RFLP at 19q13.1 identified by the anonymous DNA sequence p58B18 [D19S32]
Nucleic acids research 1989;17(9):3628.
1989: Smeets H; Coerwinkel M; Schepens J; Brunner H; Schonk D; Ropers H H; Wieringa B
MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p30B18 [D19S31]
Nucleic acids research 1989;17(9):3627.
1989: Knoers N; van der Heyden H; van Oost B A; Monnens L; Willems J; Ropers H H
Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus.
Genomics 1989;4(3):434-7.
1989: Smeets H; Schepens J; Coerwinkel M; Brunner H; Schonk D; Ropers H H; Wieringa B
TaqI RFLP at 19q13.1 identified by the anonymous DNA sequence p5B18 [D19S28]
Nucleic acids research 1989;17(8):3325.
1989: Smeets H; Markslag P; Hulsebos T; Brunner H; Schonk D; Ropers H H; Wieringa B
MspI RFLP at 19cen-q12 identified by the anonymous DNA sequence pPM17.4 [D19S29]
Nucleic acids research 1989;17(8):3324.
1989: Smeets H; Schepens J; Coerwinkel M; Brunner H; Schonk D; Ropers H H; Wieringa B
MspI RFLP at 19q12-q13.1 identified by the anonymous DNA sequence p20B18 [D19S30]
Nucleic acids research 1989;17(8):3323.
1989: Brunner H G; Korneluk R G; Coerwinkel-Driessen M; MacKenzie A; Smeets H; Lambermon H M; van Oost B A; Wieringa B; Ropers H H
Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).
Human genetics 1989;81(4):308-10.
1989: Cremers F P; van de Pol D J; Diergaarde P J; Wieringa B; Nussbaum R L; Schwartz M; Ropers H H
Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes.
Genomics 1989;4(1):41-6.
1989: Brunner H; Coerwinkel-Driessen M; Smeets B; Schonk D; Schepens J; Oerlemans F; Hamel B; Ropers H; Wieringa B
Definition of subchromosomal intervals around the myotonic dystrophy locus at 19q.
Progress in clinical and biological research 1989;306():107-14.
1989: Knoers N V; van der Heyden H; van Oost B A; Monnens L; Willems J; Ropers H H
Linkage analyses in families with nephrogenic diabetes insipidus.
Progress in clinical and biological research 1989;305():149-55.
1988: Brunner H G; van Bennekom A; Lambermon E M; Oei T L; Cremers W R; Wieringa B; Ropers H H
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.
Human genetics 1988;80(4):337-40.
1988: Brunner H; Schröder C; van Bennekom C; Lambermon E; Tuerlings J; Menzel D; Olbing H; Monnens L; Wieringa B; Ropers H H
Localization of the gene for X-linked Alport's syndrome.
Kidney international 1988;34(4):507-10.
1988: Cremers F P; van de Pol T J; Wieringa B; Hofker M H; Pearson P L; Pfeiffer R A; Mikkelsen M; Tabor A; Ropers H H
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.
American journal of human genetics 1988;43(4):452-61.
1988: Smeets B; Poddighe J; Brunner H; Ropers H H; Wieringa B
Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides.
Human genetics 1988;80(1):49-52.
1988: Knoers N; van der Heyden H; van Oost B A; Ropers H H; Monnens L; Willems J
Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome.
Human genetics 1988;80(1):31-8.
1988: Knoers N; vd Heyden H; von Oost B A; Monnens L; Willems J; Ropers H H
Linkage of X-linked nephrogenic diabetes insipidus with DXS52, a polymorphic DNA marker.
Nephron 1988;50(3):187-90.
1988: Brunner H; Schröder C; Monnens L; Veerkamp J; Ropers H H
Alport's syndrome: localization of the X-chromosomal gene and consequences for future investigations.
Contributions to nephrology 1988;67():200-5.
1988: Wieringa B; Brunner H; Hulsebos T; Schonk D; Ropers H H
Genetic and physical demarcation of the locus for dystrophia myotonica.
Advances in neurology 1988;48():47-69.
1988: Hulsebos T; Schonk D; van Dalen I; Coerwinkel-Driessen M; Schepens J; Ropers H H; Wieringa B
Isolation and characterization of alphoid DNA sequences specific for the pericentric regions of chromosomes 4, 5, 9, and 19.
Cytogenetics and cell genetics 1988;47(3):144-8.
1987: Cremers F P; Brunsmann F; van de Pol T J; Pawlowitzki I H; Paulsen K; Wieringa B; Ropers H H
Deletion of the DXS165 locus in patients with classical choroideremia.
Clinical genetics 1987;32(6):421-3.
1987: Smeets H; Markslag P; Bril J; Hulsebos T; Brunner H; Schonk D; Ropers H H; Wieringa B
EcoRI RFLP at 19 cen-q13.2 identified by the anonymous DNA sequence pPM6.7 (D19S18).
Nucleic acids research 1987;15(19):8120.
1987: Cremers F P; Pfeiffer R A; van de Pol T J; Hofker M H; Kruse T A; Wieringa B; Ropers H H
An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.
Human genetics 1987;77(1):23-7.
1987: Schepens J; Hulsebos T; Smeets H; Coerwinkel M; Brunner H; Ropers H H; Wieringa B
A locus at 19cen-19q13.2 (D19S15) containing three RFLPs linked to myotonic dystrophy (DM) is recognized by probe pJSB6.
Nucleic acids research 1987;15(7):3193.
1986: Hulsebos T; Wieringa B; Hochstenbach R; Smeets D; Schepens J; Oerlemans F; Zimmer J; Ropers H H
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome.
Cytogenetics and cell genetics 1986;43(1-2):47-56.
1986: Warburg M; Friedrich U; Bleeker-Wagemakers L; Wienker T F; Gal A; Ropers H H
Norrie's disease: delineation of carriers among daughters of obligate carriers by linkage analysis.
Transactions of the ophthalmological societies of the United Kingdom 1986;105 ( Pt 1)():88-93.
1985: Gal A; Stolzenberger C; Wienker T; Wieacker P; Ropers H H; Friedrich U; Bleeker-Wagemakers L; Pearson P; Warburg M
Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome.
Clinical genetics 1985;27(3):282-3.
1985: Bleeker-Wagemakers L M; Friedrich U; Gal A; Wienker T F; Warburg M; Ropers H H
Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.
Human genetics 1985;71(3):211-4.

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