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andrea superti-furga

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Roberto Mendoza-Londono; Laureane Mittaz; Gen Nishimura; andrea superti-furga; Sheila Unger; David Chitayat; L Lee Dupuis; Elaine Goh; Aleksander Hinek; Andrew Howard; Walter H A Kahr; Ramses Badilla-Porras; Susan Blaser; Luisa Bonafe
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Ingrid Bartsch; Martin Bommer; Anja Busse; Andreas Greinacher; Ina Hainmann; Francois Lanza; Paquita Nurden; Johannes Oldenburg; Anna Pavlova; Kirstin Sandrock; Brigitte Strahm; andrea superti-furga; Uta Tacke; Michael Barth; Barbara Zieger
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
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.

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All Publications

2012: Roberto Mendoza-Londono; Laureane Mittaz; Gen Nishimura; andrea superti-furga; Sheila Unger; David Chitayat; L Lee Dupuis; Elaine Goh; Aleksander Hinek; Andrew Howard; Walter H A Kahr; Ramses Badilla-Porras; Susan Blaser; Luisa Bonafe
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
American journal of medical genetics. Part A 2012;158A(6):1344-54.
2011: Ingrid Bartsch; Martin Bommer; Anja Busse; Andreas Greinacher; Ina Hainmann; Francois Lanza; Paquita Nurden; Johannes Oldenburg; Anna Pavlova; Kirstin Sandrock; Brigitte Strahm; andrea superti-furga; Uta Tacke; Michael Barth; Barbara Zieger
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay.
Thrombosis and haemostasis 2011;106(3):475-83.
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: Su Jin Kim; Tadeusz Bieganski; Young Bae Sohn; Kazimierz Kozlowski; Mikhail Semënov; Nobuhiko Okamoto; Chi Hwa Kim; Ah-Ra Ko; Geung Hwan Ahn; Yoon L. Choi; Sung Won Park; Chang-Seok Ki; Ok-Hwa Kim; Gen Nishimura; Sheila Unger; andrea superti-furga; Dong-Kyu Jin
Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.
Human genetics 2011;129(5):497-502.
2011: Sarah Catharina Grünert; Brian Fowler; andrea superti-furga; Jörn Oliver Sass; Karl Otfried Schwab
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.
Brain & development 2011;33(5):432-6.
2011: Julie Deuquet; Ekkehart Lausch; Nicolas Guex; Laurence Abrami; Suzanne Salvi; Asvin Lakkaraju; Maria Celeste M Ramirez; John A Martignetti; Dariusz Rokicki; Luisa Bonafe; andrea superti-furga; F Gisou van der Goot
Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors.
EMBO molecular medicine 2011;3(4):208-21.
2011: Brian P Kelley; Fransiska Malfait; Luisa Bonafe; Dustin Baldridge; Erica Homan; Sofie Symoens; Andy Willaert; Nursel Elcioglu; Lionel Van Maldergem; Christine Verellen-Dumoulin; Yves Gillerot; Dobrawa Napierala; Deborah Krakow; Peter Beighton; andrea superti-furga; Anne De Paepe; Brendan Lee
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26(3):666-72.
2011: Livia Garavelli; Anita Wischmeijer; Simonetta Rosato; Chiara Gelmini; Sandro Reverberi; Silvia Sassi; Adriano Ferrari; Francesca Mari; Bernhard Zabel; Ekkehart Lausch; Sheila Unger; andrea superti-furga
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
American journal of medical genetics. Part A 2011;155A(2):332-6.
2011: Ekkehart Lausch; Andreas Janecke; Matthias Bros; Stefanie Trojandt; Yasemin Alanay; Corinne De Laet; Christian A Hübner; Peter Meinecke; Gen Nishimura; Mari Matsuo; Yoshiko Hirano; Sylvie Tenoutasse; Andrea Kiss; Rafael Fabiano Machado Rosa; Sharon L Unger; Raffaele Renella; Luisa Bonafé; Jürgen Spranger; Sheila Unger; Bernhard Zabel; andrea superti-furga
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Nature genetics 2011;43(2):132-7.
2011: Tatsuya Furuichi; Jin Dai; Tae-Joon Cho; Satoru Sakazume; Masahide Ikema; Yoshito Matsui; Gareth Baynam; Toshiro Nagai; Noriko Miyake; Naomichi Matsumoto; Hirofumi Ohashi; Sheila Unger; andrea superti-furga; Ok-Hwa Kim; Gen Nishimura; Shiro Ikegawa
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Journal of medical genetics 2011;48(1):32-7.
2010: Sheila Unger; Ekkehart Lausch; Antonio Rossi; Andre Mégarbané; David Sillence; Melanie Alcausin; Antonio Aytes; Roberto Mendoza-Londono; Sheela Nampoothiri; Bushra Afroze; Bryan Hall; Ivan F M Lo; Stephen T S Lam; Julia Hoefele; Imma Rost; Emma Wakeling; Elisabeth Mangold; Komudi Godbole; Nithiwat Vatanavicharn; Luis M Franco; Kate Chandler; Sophia Hollander; Tanja Velten; Kerstin Reicherter; Jürgen Spranger; Stephen Robertson; Luisa Bonafé; Bernhard Zabel; andrea superti-furga
Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.
American journal of medical genetics. Part A 2010;152A(10):2543-9.
2010: J Dai; O-H Kim; T-J Cho; M Schmidt-Rimpler; H Tonoki; K Takikawa; N Haga; K Miyoshi; H Kitoh; W-J Yoo; I-H Choi; H-R Song; D-K Jin; H-T Kim; H Kamasaki; P Bianchi; G Grigelioniene; S Nampoothiri; M Minagawa; S-i Miyagawa; T Fukao; C Marcelis; M C E Jansweijer; R C M Hennekam; F Bedeschi; A Mustonen; Q Jiang; H Ohashi; T Furuichi; S Unger; B Zabel; E Lausch; andrea superti-furga; G Nishimura; S Ikegawa
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Journal of medical genetics 2010;47(10):704-9.
2010: Tae-Joon Cho; Ok-Hwa Kim; In Ho Choi; Gen Nishimura; andrea superti-furga; Kang Suhp Kim; Young-Ju Lee; Woong-Yang Park
A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
Journal of medical genetics 2010;47(9):638-9.
2010: Claudine Rieubland; Sebastien Jacquemont; Laureane Mittaz; Maria-Chiara Osterheld; Yvan Vial; andrea superti-furga; Sheila Unger; Luisa Bonafé
Phenotypic and molecular characterization of a novel case of dyssegmental dysplasia, Silverman-Handmaker type.
European journal of medical genetics 2010;53(5):294-8.
2010: Julia Horn; Michael Schlesier; Klaus Warnatz; Antje Prasse; andrea superti-furga; Hans-Hartmut Peter; Ulrich Salzer
Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia.
Human immunology 2010;71(9):916-9.
2010: Jin Dai; Tae-Joon Cho; Sheila Unger; Ekkehart Lausch; Gen Nishimura; Ok-Hwa Kim; andrea superti-furga; Shiro Ikegawa
TRPV4-pathy, a novel channelopathy affecting diverse systems.
Journal of human genetics 2010;55(7):400-2.
2010: Benedetta Gualeni; Marcella Facchini; Fabio De Leonardis; Ruggero Tenni; Giuseppe Cetta; Manuela Viola; Alberto Passi; andrea superti-furga; Antonella Forlino; Antonio Rossi
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling.
Matrix biology : journal of the International Society for Matrix Biology 2010;29(6):453-60.
2010: Gen Nishimura; Jin Dai; Ekkehart Lausch; Sheila Unger; André Megarbané; Hiroshi Kitoh; Ok Hwa Kim; Tae-Joon Cho; Francesca Bedeschi; Francesco Benedicenti; Roberto Mendoza-Londono; Margherita Silengo; Maren Schmidt-Rimpler; Jurgen Spranger; Bernhard Zabel; Shiro Ikegawa; andrea superti-furga
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
American journal of medical genetics. Part A 2010;152A(6):1443-9.
2010: C Vannier; W Behnisch; I Bartsch; K Sandrock; F Ertle; K Schmidt; A Busse; andrea superti-furga; A Kulozik; S Santoso; Barbara Zieger
Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I.
Klinische Pädiatrie 2010;222(3):150-3.
2010: Yasemin Alanay; Hrispima Avaygan; Natalia Camacho; G Eda Utine; Koray Boduroglu; Dilek Aktas; Mehmet Alikasifoglu; Ergul Tuncbilek; Diclehan Orhan; Filiz Tiker Bakar; Bernard Zabel; andrea superti-furga; Leena Bruckner-Tuderman; Cindy J R Curry; Shawna Pyott; Peter H Byers; David R Eyre; Dustin Baldridge; Brendan Lee; Amy Merrill; Elaine C Davis; Daniel H Cohn; Nurten Akarsu; Deborah Krakow
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
American journal of human genetics 2010;86(4):551-9.
2010: Ok-Hwa Kim; Gen Nishimura; Hae-Ryong Song; Yoshito Matsui; Satoru Sakazume; Masanobu Yamada; Yoko Narumi; Yasemin Alanay; Sheila Unger; Tae-Joon Cho; Sung Sup Park; Shiro Ikegawa; Peter Meinecke; andrea superti-furga
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
American journal of medical genetics. Part A 2010;152A(4):875-85.
2010: C Jung; Nathalie Dagoneau; G Baujat; Martine Le Merrer; A David; M Di Rocco; B Hamel; André Mégarbané; andrea superti-furga; S Unger; Arnold Munnich; Valérie Cormier-Daire
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity.
Clinical genetics 2010;77(3):266-72.
2010: Patrick Smits; Andrew D Bolton; Vincent Funari; Minh Hong; Eric D Boyden; Lei Lu; Danielle K Manning; Noelle D Dwyer; Jennifer L Moran; Mary Prysak; Barry Merriman; Stanley F Nelson; Luisa Bonafé; andrea superti-furga; Shiro Ikegawa; Deborah Krakow; Daniel H Cohn; Tom Kirchhausen; Matthew L Warman; David Beier
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.
The New England journal of medicine 2010;362(3):206-16.
2010: Timo Hinrichs; andrea superti-furga; Wolf-Dieter Scheiderer; Luisa Bonafé; Rolf E Brenner; Thomas Mattes
Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report.
BMC musculoskeletal disorders 2010;11():110.
2010: Kerstin N Walter; Frederike B Kienzle; A Frankenschmidt; Olaf Hiort; Stefan A Wudy; Natascha van der Werf-Grohmann; andrea superti-furga; Karl Otfried Schwab
Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.
Hormone research in pædiatrics 2010;74(1):67-71.
2010: andrea superti-furga; Livia Garavelli
Current themes in molecular pediatrics: molecular medicine and its applications.
Italian journal of pediatrics 2010;36():20.
2009: Jan Hellemans; Marleen Simon; Annelies Dheedene; Yasemin Alanay; Ercan Mihci; Laila Rifai; abdelaziz sefiani; Yolande van Bever; Morteza Meradji; andrea superti-furga; Geert R Mortier
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
American journal of human genetics 2009;85(6):916-22.
2009: M Kranendijk; Gajja S Salomons; K Michael Gibson; C Aktuglu-Zeybek; S Bekri; E Christensen; J Clarke; A Hahn; Stanley H Korman; Vlatka Mejaski-Bosnjak; andrea superti-furga; C Vianey-Saban; Marjo S van der Knaap; Cornelis Jakobs; Eduard A Struys
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
Journal of inherited metabolic disease 2009;32(6):713-9.
2009: Céline Huber; Bénédicte Oulès; Marta Bertoli; MOUNIA CHAMI; Mélanie Fradin; Yasemin Alanay; Lihadh I Al-Gazali; Margreet G E M Ausems; Pierre Bitoun; Denise P Cavalcanti; Alexander Krebs; Martine Le Merrer; Geert Mortier; Yousef Shafeghati; andrea superti-furga; Stephen P Robertson; Carine Le Goff; Andrea Onetti Muda; Patrizia Paterlini-Bréchot; Arnold Munnich; Valérie Cormier-Daire
Identification of CANT1 mutations in Desbuquois dysplasia.
American journal of human genetics 2009;85(5):706-10.
2009: L Garavelli; M R D'Apice; F Rivieri; M Bertoli; A Wischmeijer; C Gelmini; V De Nigris; E Albertini; S Rosato; R Virdis; E Bacchini; R Dal Zotto; G Banchini; L Iughetti; S Bernasconi; andrea superti-furga; G Novelli
Mandibuloacral dysplasia type A in childhood.
American journal of medical genetics. Part A 2009;149A(10):2258-64.
2009: Francesca Mari; Pia Hermanns; Maria L Giovannucci-Uzielli; Fiorella Galluzzi; Daryl Scott; Brendan Lee; Alessandra Renieri; Sheila Unger; Bernhard Zabel; andrea superti-furga
Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis.
European journal of human genetics : EJHG 2009;17(9):1141-7.
2009: Heike Schützle; Johannes Forster; andrea superti-furga; Reinhard Berner
Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis.
European journal of pediatrics 2009;168(9):1117-24.
2009: K Felgentreff; W Schupp; Joerg-Elard Otten; Klaus Dieter Rückauer; Markus Uhl; E Jüttner; andrea superti-furga; Martin Pohl
Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue.
European journal of pediatrics 2009;168(9):1141-5.
2009: Ekkehart Lausch; Romy Keppler; Katja Hilbert; Valerie Cormier-Daire; Sarah Nikkel; Gen Nishimura; Sheila Unger; Jürgen Spranger; andrea superti-furga; Bernhard Zabel
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.
American journal of human genetics 2009;85(2):168-78.
2009: T Furuichi; H Kayserili; S Hiraoka; G Nishimura; H Ohashi; Y Alanay; J C Lerena; A D Aslanger; H Koseki; D H Cohn; andrea superti-furga; S Unger; S Ikegawa
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
Journal of medical genetics 2009;46(8):562-8.
2009: Ok-Hwa Kim; Tae-Joon Cho; Hae-Ryong Song; Chin Youb Chung; Shin-Ichiro Miyagawa; Gen Nishimura; andrea superti-furga; Sheila Unger
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Skeletal radiology 2009;38(8):803-11.
2009: C A Hanke; Roland Hentschel; Reinhard Berner; S Timme; andrea superti-furga; KD Rückauer; Christian von Schnakenburg
Clostridium perfringens intestinal gas gangrene in a preterm newborn.
European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift für Kinderchirurgie 2009;19(4):257-9.
2009: Marine Jequier Gygax; Eliane Roulet-Perez; Kathleen Meagher-Villemure; Cornelis Jakobs; Gajja S Salomons; Olivier Boulat; andrea superti-furga; Diana Ballhausen; Luisa Bonafé
Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.
European journal of pediatrics 2009;168(8):957-62.
2009: M Erlacher; J Heiss; I Hainmann; M Uhl; U Budde; J Oldenburg; V Ivaskevicius; J Al-Jamali; H Zajonc; andrea superti-furga; B Zieger
Novel findings in two patients with late-diagnosed afibrinogenaemia: intraosseous haemorrhage and fingertip necrosis.
Haemophilia : the official journal of the World Federation of Hemophilia 2009;15(4):980-2.
2009: Christian von Schnakenburg; M Hufnagel; andrea superti-furga; Esther Rieger-Fackeldey; Reinhard Berner
[Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome].
Klinische Pädiatrie 2009;221(4):251-3.
2009: Maren Hermanns-Clausen; Wolfgang Weinmann; Volker Auwärter; Nerea Ferreirós; Rainer Trittler; Christoph Müller; Andreas Pahl; andrea superti-furga; Roland Hentschel
Drug dosing error with drops: severe clinical course of codeine intoxication in twins.
European journal of pediatrics 2009;168(7):819-24.
2009: Dan Hanson; Philip G Murray; Amit Sud; Samia A Temtamy; Mona Aglan; andrea superti-furga; Sue E Holder; Jill Urquhart; Emma Hilton; Forbes D C Manson; Peter Scambler; Graeme C M Black; Peter E Clayton
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
American journal of human genetics 2009;84(6):801-6.
2009: Ana Belinda Campos-Xavier; Danielle Martinet; John Bateman; Dan Belluoccio; Lynn Rowley; Tiong Yang Tan; Alica Baxová; Karl-Henrik Gustavson; Zvi U Borochowitz; A Micheil Innes; Sheila Unger; Jacques Beckmann; Lauréane Mittaz; Diana Ballhausen; andrea superti-furga; Ravi Savarirayan; Luisa Bonafé
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
American journal of human genetics 2009;84(6):760-70.
2009: K N Walter; M Erlacher; M Uhl; U Budde; G Nowak; andrea superti-furga; B Zieger
Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II.
Klinische Pädiatrie 2009;221(3):174-5.
2009: Ina Hainmann; J Oldenburg; A Pavlova; andrea superti-furga; B Zieger
Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency.
Hämostaseologie 2009;29(2):184-6.
2009: Charis Kepron; Andrea Blumenthal; David Chitayat; Ernest Cutz; andrea superti-furga; Sarah Keating
An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2009;12(1):53-8.
2009: Andrea Heinzmann; Markus Brugger; Christina Engels; Heinrich Prömpeler; andrea superti-furga; Konstantin Strauch; Marcus Krueger
Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population.
Acta paediatrica (Oslo, Norway : 1992) 2009;98(1):25-30.
2008: Luisa Bonafé; J Hästbacka; ALBERT DE LA CHAPELLE; A B Campos-Xavier; C Chiesa; A Forlino; andrea superti-furga; A Rossi
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Journal of medical genetics 2008;45(12):827-31.
2008: A Rimella-Le-Huu; Eliane Roulet-Perez; andrea superti-furga; Luisa Bonafé; S Hanquinet; H Henry; I Kern; Christopher J Newman; Diana Ballhausen
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
Journal of inherited metabolic disease 2008;31 Suppl 2():S381-6.
2008: Elisabeth Steichen-Gersdorf; I Gassner; andrea superti-furga; R Ullmann; S Stricker; E Klopocki; Stefan Mundlos
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.
Clinical genetics 2008;74(6):560-5.
2008: Carsten Speckmann; Ulrich Pannicke; Elisabeth Wiech; Klaus Schwarz; Paul Fisch; Wilhelm Friedrich; Tim Niehues; Kimberly Gilmour; Karin Buiting; Michael Schlesier; Hermann Eibel; Jan Rohr; andrea superti-furga; Ute Gross-Wieltsch; Stephan Ehl
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Blood 2008;112(10):4090-7.
2008: Ekkehart Lausch; Pia Hermanns; Henner F Farin; Yasemin Alanay; Sheila Unger; Sarah Nikkel; Christoph Steinwender; Gerd Scherer; Jürgen Spranger; Bernhard Zabel; Andreas Kispert; andrea superti-furga
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
American journal of human genetics 2008;83(5):649-55.
2008: Pia Hermanns; Sheila Unger; Antonio Rossi; Antonio Perez-Aytes; Hector Cortina; Luisa Bonafé; Loredana Boccone; Valeria Setzu; Michel Dutoit; Luca Sangiorgi; Fabio Pecora; Kerstin Reicherter; Gen Nishimura; Jürgen Spranger; Bernhard Zabel; andrea superti-furga
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.
American journal of human genetics 2008;82(6):1368-74.
2008: L Garavelli; D De Brasi; R Verri; E Guareschi; F Cariola; D Melis; G Calcagno; F Salvatore; S Unger; G Sebastio; G Albertini; F Rivieri; F Soli; andrea superti-furga; Mattia Gentile
Holt-Oram syndrome associated with anomalies of the feet.
American journal of medical genetics. Part A 2008;146A(9):1185-9.
2008: Michelle Nino; Claudia Matos-Miranda; Momoe Maeda; Li Chen; Judith Allanson; Christine Armour; Carol L Greene; Majeeda Kamaluddeen; Debra Rita; Livija Medne; Elaine Zackai; Sahar Mansour; andrea superti-furga; Amy Lewanda; Michael Bober; Kenneth Rosenbaum; Nancy Braverman
Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.
American journal of medical genetics. Part A 2008;146A(8):997-1008.
2008: Anastasia E Konstantinidou; Charalampos Karadimas; Hans R Waterham; andrea superti-furga; Petros Kaminopetros; Maria Grigoriadou; Haris Kokotas; George Agrogiannis; Aglaia Giannoulia-Karantana; Efstratios Patsouris; Michael B Petersen
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
Prenatal diagnosis 2008;28(4):309-12.
2008: Sheila Unger; Franco Antoniazzi; Milena Brugnara; Yasemin Alanay; Ahmet Caglayan; Katherine Lachlan; Shiro Ikegawa; Gen Nishimura; Bernhard Zabel; Jürgen Spranger; andrea superti-furga
Clinical and radiographic delineation of odontochondrodysplasia.
American journal of medical genetics. Part A 2008;146A(6):770-8.
2008: Sheila Unger; Luisa Bonafé; andrea superti-furga
Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
Best practice & research. Clinical rheumatology 2008;22(1):19-32.
2008: Sheila Unger; Detlef Böhm; Frank J Kaiser; Silke Kaulfuss; Wiktor Borozdin; Karin Buiting; Peter Burfeind; Johann Böhm; Francisco Barrionuevo; Alexander Craig; Kristi Borowski; Kim Keppler-Noreuil; Thomas Schmitt-Mechelke; Bernhard Steiner; Deborah Bartholdi; Johannes Lemke; Geert R Mortier; Richard Sandford; Bernhard Zabel; andrea superti-furga; Juergen Kohlhase
Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.
Nature genetics 2008;40(3):287-9.
2008: Toshiyuki Fukada; Natacha Civic; Tatsuya Furuichi; Shinji Shimoda; Kenji Mishima; Hiroyuki Higashiyama; Yayoi Idaira; Yoshinobu Asada; Hiroshi Kitamura; Satoru Yamasaki; Shintaro Hojyo; Manabu Nakayama; Osamu Ohara; Haruhiko Koseki; Heloisa G Dos Santos; Luisa Bonafe; Russia Ha-Vinh; Andreas Zankl; Sheila Unger; Marius E Kraenzlin; Jacques Beckmann; Ichiro Saito; C Rivolta; Shiro Ikegawa; andrea superti-furga; Toshio Hirano
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways.
PloS one 2008;3(11):e3642.
2007: David Chitayat; Patrick Shannon; Sarah Keating; Ants Toi; Susan Blaser; Tami Friedberg; andrea superti-furga; Karen Chong; Sheila Unger
Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings.
American journal of medical genetics. Part A 2007;143A(24):3280-5.
2007: Shuichi Hiraoka; Tatsuya Furuichi; Gen Nishimura; Shunichi Shibata; Masaki Yanagishita; David L Rimoin; andrea superti-furga; Peter Nikkels; Minako Ogawa; Kayoko Katsuyama; Hidenao Toyoda; Akiko Kinoshita-Toyoda; Nobuhiro Ishida; Kyoichi Isono; Yutaka Sanai; Daniel H Cohn; Haruhiko Koseki; Shiro Ikegawa
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human.
Nature medicine 2007;13(11):1363-7.
2007: Sheila Unger; Anita Mainberger; Christian Spitz; Anna Bähr; Christine Zeschnigk; Bernhard Zabel; andrea superti-furga; Deborah J Morris-Rosendahl
Filamin A mutation is one cause of FG syndrome.
American journal of medical genetics. Part A 2007;143A(16):1876-9.
2007: Max Christoph Liebau; Andreas Gal; andrea superti-furga; Heymut Omran; Martin Pohl
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Pediatric nephrology (Berlin, Germany) 2007;22(7):1058-61.
2007: Raffaele Renella; andrea superti-furga
A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006].
American journal of medical genetics. Part A 2007;143A(12):1394-5.
2007: Karl Otfried Schwab; Jürgen Doerfer; Andreas Krebs; Kristin Krebs; Elisabeth Schorb; Kristiane Hallermann; andrea superti-furga; Barbara Zieger; Winfried März; Arno Schmidt-Trucksäss; Karl Winkler
Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia.
European journal of pediatrics 2007;166(6):541-8.
2007: Gen Nishimura; Eiji Nakashima; Yuichiro Hirose; Trevor Cole; Phillip Cox; Daniel H Cohn; David L Rimoin; Ralph S Lachman; Yoshinari Miyamoto; Bronwyn Kerr; Sheila Unger; Hirofumi Ohashi; andrea superti-furga; Shiro Ikegawa
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
Journal of medical genetics 2007;44(4):e73.
2007: Andreas Zankl; Gail C Jackson; Laureane Mittaz Crettol; Jacky Taylor; Rob Elles; Geert R Mortier; Jürgen Spranger; Bernhard Zabel; Sheila Unger; Martine Le Merrer; Valérie Cormier-Daire; Christine M Hall; Michael J Wright; Luisa Bonafe; andrea superti-furga; Michael D Briggs
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
European journal of human genetics : EJHG 2007;15(2):150-4.
2007: Andreas Zankl; Lauren M Pachman; Andrew Poznanski; Luisa Bonafé; Fengqiang Wang; Yelena Shusterman; David A Fishman; andrea superti-furga
Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2007;22(2):329-33.
2007: Kerstin Walter; Mojca Tansek; Edward S Tobias; Shiro Ikegawa; Paul Coucke; James Hyland; Geert R Mortier; Tsutomu Iwaya; Gen Nishimura; andrea superti-furga; Sheila Unger
COL2A1-related skeletal dysplasias with predominant metaphyseal involvement.
American journal of medical genetics. Part A 2007;143(2):161-7.
2007: Ozgur Cogulu; Cumhur Gunduz; Emin Karaca; Huseyin Onay; andrea superti-furga; Ferda Ozkinay
Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl.
Genetic counseling (Geneva, Switzerland) 2007;18(1):77-83.
2007: andrea superti-furga; Sheila Unger
Nosology and classification of genetic skeletal disorders: 2006 revision.
American journal of medical genetics. Part A 2007;143(1):1-18.
2006: Fabio Pecora; Benedetta Gualeni; Antonella Forlino; andrea superti-furga; Ruggero Tenni; Giuseppe Cetta; Antonio Rossi
In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation.
The Biochemical journal 2006;398(3):509-14.
2006: Stephen P Robertson; Zandra A Jenkins; Timothy Morgan; Lesley C Adès; Salim Aftimos; Odile Boute; Torunn Fiskerstrand; Sixto Garcia-Miñaur; Arthur Grix; Andrew Green; Vazken M Der Kaloustian; Ray Lewkonia; Brenda McInnes; Mieke M van Haelst; Grazia Mancini; Grazia Macini; Tamás Illés; Geert R Mortier; Ruth Newbury-Ecob; Linda Nicholson; Charles I Scott; Karolina Ochman; Izabela Brozek; Deborah J Shears; andrea superti-furga; Mohnish Suri; Margo Whiteford; Andrew O M Wilkie; Deborah Krakow
Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.
American journal of medical genetics. Part A 2006;140(16):1726-36.
2006: Claire Farrington-Rock; Marc H Firestein; Louise S Bicknell; andrea superti-furga; Carlos A Bacino; Valérie Cormier-Daire; Martine Le Merrer; Clarisse Baumann; Joelle Roume; Patrick Rump; Joke B G M Verheij; Elizabeth Sweeney; David L Rimoin; Ralph S Lachman; Stephen P Robertson; Daniel H Cohn; Deborah Krakow
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Human mutation 2006;27(7):705-10.
2006: Sibylle Bierbaum; andrea superti-furga; Andrea Heinzmann
Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma.
International journal of immunogenetics 2006;33(3):201-4.
2006: Kristien P Hoornaert; C Dewinter; I Vereecke; Frits A Beemer; Winnie Courtens; Alan Fryer; H Fryssira; M Lees; A Müllner-Eidenböck; David L Rimoin; L Siderius; andrea superti-furga; K Temple; Patrick J Willems; Andreas Zankl; C Zweier; Anne De Paepe; Paul Coucke; Geert R Mortier
The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.
Journal of medical genetics 2006;43(5):406-13.
2006: Yasemin Alanay; andrea superti-furga; Fatih Karel; Ergül Tunçbilek
Spondylo-ocular syndrome: a new entity involving the eye and spine.
American journal of medical genetics. Part A 2006;140(6):652-6.
2006: Raffaele Renella; Elke Schaefer; Martine LeMerrer; Yasemin Alanay; Nurgun Kandemir; Georg Eich; Teresa Costa; Diana Ballhausen; Eugen Boltshauser; Luisa Bonafé; Andres Giedion; Sheila Unger; andrea superti-furga
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder.
American journal of medical genetics. Part A 2006;140(6):541-50.
2006: Jorn Oliver Sass; Verena Mohr; Heike Olbrich; Udo Engelke; Judit Horvath; Manfred Fliegauf; Niki Tomas Loges; Susanne Schweitzer-Krantz; Ralf Moebus; Polly Weiler; Andreas Kispert; andrea superti-furga; Ron A Wevers; Heymut Omran
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
American journal of human genetics 2006;78(3):401-9.
2006: Livia Garavelli; S Pedori; R Dal Zotto; F Franchi; M Marinelli; Gianfranco Croci; S Bellato; A Ammenti; Raffaele Virdis; Giacomo Banchini; andrea superti-furga
Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review.
Genetic counseling (Geneva, Switzerland) 2006;17(4):449-55.
2006: Antonella Forlino; Benedetta Gualeni; Fabio Pecora; Sara Della Torre; Rocco Piazza; Cecilia Tiveron; Laura Tatangelo; andrea superti-furga; Giuseppe Cetta; Antonio Rossi
Insights from a transgenic mouse model on the role of SLC26A2 in health and disease.
Novartis Foundation symposium 2006;273():193-206; discussion 206-12, 261-4.
2005: Sibylle Bierbaum; Renate Nickel; Anja Koch; Susanne Lau; Klaus A Deichmann; Ulrich Wahn; andrea superti-furga; Andrea Heinzmann
Polymorphisms and haplotypes of acid mammalian chitinase are associated with bronchial asthma.
American journal of respiratory and critical care medicine 2005;172(12):1505-9.
2005: Jörn Oliver Sass; andrea superti-furga
Gamma-hydroxybutyric acid.
The New England journal of medicine 2005;353(15):1632-3.
2005: Luisa Bonafé; Emmanouil T Dermitzakis; Sheila Unger; Cheryl R Greenberg; Belinda A Campos-Xavier; Andreas Zankl; Catherine Ucla; Stylianos E Antonarakis; andrea superti-furga; Alexandre Reymond
Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.
PLoS genetics 2005;1(4):e47.
2005: Céline Huber; Dora Dias-Santagata; Anna Glaser; James O'Sullivan; Raja Brauner; Kenneth Wu; Xinsong Xu; Kerra Pearce; Rong Wang; Maria Luisa Giovannucci Uzielli; Nathalie Dagoneau; Wassim Chemaitilly; andrea superti-furga; Heloisa Dos Santos; André Mégarbané; Gilles Morin; Gabriele Gillessen-Kaesbach; Raoul Hennekam; Ineke van der Burgt; Graeme C M Black; Peter E Clayton; Andrew Read; Martine Le Merrer; Peter J Scambler; Arnold Munnich; Zhen-Qiang Pan; Robin Winter; Valérie Cormier-Daire
Identification of mutations in CUL7 in 3-M syndrome.
Nature genetics 2005;37(10):1119-24.
2005: Sergio Fernandez Aguilar; Jean-Christophe Noël; Nicole Van Regemorter; andrea superti-furga; Luisa Bonafé; Catherine Donner
Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy.
Prenatal diagnosis 2005;25(8):717-8.
2005: Christian Balmer; Diana Ballhausen; Nils U Bosshard; Beat Steinmann; Eugen Boltshauser; Urs Bauersfeld; andrea superti-furga
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.
European journal of pediatrics 2005;164(8):509-14.
2005: Tiong Yang Tan; George McGillivray; Louise Kornman; A Michelle Fink; andrea superti-furga; Luisa Bonafé; David I Francis; Ravi Savarirayan
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.
American journal of medical genetics. Part A 2005;135(3):324-7.
2005: Johannes Alexander Lobrinus; Daniel F Schorderet; Maurice Payot; X Jeanrenaud; A Bottani; andrea superti-furga; Jürg Schlaepfer; Martin Fromer; Pierre-Yves Jeannet
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease).
Neuromuscular disorders : NMD 2005;15(4):293-8.
2005: Sheila Unger; David A Paul; Michelle C Nino; Charles P McKay; Stephen Miller; Etienne Sochett; Nancy Braverman; Joe T R Clarke; David E C Cole; andrea superti-furga
Mucolipidosis II presenting as severe neonatal hyperparathyroidism.
European journal of pediatrics 2005;164(4):236-43.
2005: Antonella Forlino; Rocco Piazza; Cecilia Tiveron; Sara Della Torre; Laura Tatangelo; Luisa Bonafè; Benedetta Gualeni; Assunta Romano; Fabio Pecora; andrea superti-furga; Giuseppe Cetta; Antonio Rossi
A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype.
Human molecular genetics 2005;14(6):859-71.
2005: Andreas Zankl; Luisa Bonafé; V Calcaterra; M Di Rocco; andrea superti-furga
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.
Clinical genetics 2005;67(3):261-6.
2005: Andreas Zankl; Luitgard Neumann; Jaakko Ignatius; Peter Nikkels; C T R M Schrander-Stumpel; Geert R Mortier; Heymut Omran; Michael Wright; Katja Hilbert; Luisa Bonafé; Jürgen Spranger; Bernhard Zabel; andrea superti-furga
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies.
American journal of medical genetics. Part A 2005;133A(1):61-7.
2005: Ahmet Bayar; Ceyda Acun; Ahmet Dursun; Nanda Verhoeven; Luisa Bonafé; Selçuk Keser; andrea superti-furga
Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation.
Clinical dysmorphology 2005;14(1):7-11.
2004: Andreas Zankl; Gudrun Jaeger; Luisa Bonafé; Eugen Boltshauser; andrea superti-furga
Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome.
American journal of medical genetics. Part A 2004;131(3):299-300.
2004: Russia Ha-Vinh; Yasemin Alanay; Ruud A Bank; Ana Belinda Campos-Xavier; Andreas Zankl; andrea superti-furga; Luisa Bonafé
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2.
American journal of medical genetics. Part A 2004;131(2):115-20.
2004: andrea superti-furga
Growing bone knowledge.
Clinical genetics 2004;66(5):399-401.
2004: Andreas Zankl; Bernhard Zabel; Katja Hilbert; Gabriele Wildhardt; Segoleine Cuenot; Belinda Xavier; Russia Ha-Vinh; Luisa Bonafé; Jürgen Spranger; andrea superti-furga
Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1.
American journal of medical genetics. Part A 2004;129A(2):144-8.
2004: Deborah Krakow; Stephen P Robertson; Lily M King; Timothy Morgan; Eiman Sebald; Cristina Bertolotto; Sebastian Wachsmann-Hogiu; Dora Acuna; Sandor S Shapiro; Toshiro Takafuta; Salim Aftimos; Chong A Kim; Helen V Firth; Carlos E Steiner; Valérie Cormier-Daire; andrea superti-furga; Luisa Bonafe; John M Graham; Arthur Grix; Carlos A Bacino; Judith E Allanson; Martin G Bialer; Ralph S Lachman; David L Rimoin; Daniel H Cohn
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.
Nature genetics 2004;36(4):405-10.
2004: Nathalie Dagoneau; Déborah Scheffer; Céline Huber; Lihadh Al-Gazali; Maja Di Rocco; Anne Godard; Jelena Martinovic; Annick Raas-Rothschild; Sabine Sigaudy; Sheila Unger; Sophie Nicole; Bertrand Fontaine; Jean-Luc Taupin; Jean-François Moreau; andrea superti-furga; Martine Le Merrer; Jacky Bonaventure; Arnold Munnich; Laurence Legeai-Mallet; Valérie Cormier-Daire
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
American journal of human genetics 2004;74(2):298-305.
2004: Stephan Ehl; Markus Uhl; Reinhard Berner; Luisa Bonafé; andrea superti-furga; Antje Kirchhoff
Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy.
Rheumatology international 2004;24(1):53-6.
2003: Eveliina Jakkula; Jaana Lohiniva; A Capone; Luisa Bonafe; M Marti; Volker Schuster; Andres Giedion; Georg Eich; Eugen Boltshauser; Leena Ala-Kokko; andrea superti-furga
A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
Journal of medical genetics 2003;40(12):942-8.
2003: andrea superti-furga
Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.
European journal of pediatrics 2003;162 Suppl 1():S17-20.
2003: Outi Mäkitie; Ravi Savarirayan; Luisa Bonafé; Stephen Robertson; Miki Susic; andrea superti-furga; William G Cole
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
American journal of medical genetics. Part A 2003;122A(3):187-92.
2003: Sandra Hanks; Sarah Adams; Jenny Douglas; Laura Arbour; David J Atherton; Sevim Balci; Harald Bode; Mary E Campbell; Murray Feingold; Gökhan Keser; Wim J Kleijer; Grazia Mancini; John A McGrath; Francesco Muntoni; Arti Nanda; M Dawn Teare; Matthew Warman; F Michael Pope; andrea superti-furga; P Andrew Futreal; Nazneen Rahman
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.
American journal of human genetics 2003;73(4):791-800.
2003: Marja W Wessels; Nicolette S den Hollander; Ronald R de Krijger; Luisa Bonifé; andrea superti-furga; Peter Nikkels; Patrick J Willems
Prenatal diagnosis of boomerang dysplasia.
American journal of medical genetics. Part A 2003;122A(2):148-54.
2003: Olga Grafakou; Konrad Oexle; Lambert van Den Heuvel; Roel Smeets; Frans J M Trijbels; Hans H Goebel; Nils U Bosshard; andrea superti-furga; Beat Steinmann; jan smeitink
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.
European journal of pediatrics 2003;162(10):714-8.
2003: Frank Rutsch; Nico Ruf; Sucheta M Vaingankar; Mohammad R Toliat; Anita Suk; Wolfgang Höhne; Galen Schauer; Mandy Lehmann; Tony Roscioli; Dirk Schnabel; Jörg T Epplen; Alex Knisely; andrea superti-furga; James McGill; Marco Filippone; Alan R Sinaiko; Hillary Vallance; Bernd Hinrichs; Wendy Smith; Merry Ferre; Robert Terkeltaub; Peter Nürnberg
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
Nature genetics 2003;34(4):379-81.
2003: Luisa Bonafé; Cecilia Giunta; M Gassner; B Steinmann; andrea superti-furga
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village.
Clinical genetics 2003;64(1):28-35.
2003: Christina Chrysochoou; Christoph Rutishauser; Christine Rauber-Lüthy; Thomas Neuhaus; Eugen Boltshauser; andrea superti-furga
An 11-month-old boy with psychomotor regression and auto-aggressive behaviour.
European journal of pediatrics 2003;162(7-8):559-61.
2003: Maja Di Rocco; G Stella; Claudio Bruno; Laura Doria-Lamba; Massimo Bado; andrea superti-furga
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
American journal of medical genetics. Part A 2003;118A(4):362-8.
2003: Elisabeth Bruder; Thomas Stallmach; Karin Peier; andrea superti-furga; Paolo Vezzoni
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation.
Pediatric pathology & molecular medicine 2003;22(1):3-9.
2003: Diana Ballhausen; Luisa Bonafé; P Terhal; S L Unger; G Bellus; M Classen; B C Hamel; Jürgen Spranger; Bernhard Zabel; Daniel H Cohn; William G Cole; Jacqueline T Hecht; andrea superti-furga
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.
Journal of medical genetics 2003;40(1):65-71.
2002: Nazneen Rahman; Melanie Dunstan; M Dawn Teare; Sandra Hanks; Sarah Edkins; Jaime Hughes; Graham R Bignell; Grazia Mancini; Wim J Kleijer; Mary Campbell; Gokhan Keser; Carol Black; Nigel Williams; Laura Arbour; Matthew Warman; andrea superti-furga; P Andrew Futreal; F Michael Pope
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21.
American journal of human genetics 2002;71(4):975-80.
2002: Michael Kiehntopf; Jörg Schickel; Bärbel von der Gönne; Hans Georg Koch; andrea superti-furga; Beat Steinmann; Thomas Deufel; Erik Harms
Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
Human mutation 2002;20(3):237.
2002: Markus A Landolt; Jean-Marc Nuoffer; Beat Steinmann; andrea superti-furga
Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal.
The Journal of pediatrics 2002;140(5):516-21.
2002: Luisa Bonafé; S Blanton; A Scott; S Broussard; Carol A Wise; andrea superti-furga; Jacqueline T Hecht
DTDST mutations are not a frequent cause of idiopathic talipes equinovarus (club foot).
Journal of medical genetics 2002;39(4):e20.
2002: Guido F Laube; andrea superti-furga; Michele Losa; Vera Büttiker; Christoph Berger; Thomas J Neuhaus
Hyperammonaemic encephalopathy in a 13-year-old boy.
European journal of pediatrics 2002;161(3):163-4.
2002: J Mach; D Sobetzko; andrea superti-furga; Thomas Stoll
[Early-onset generalized polyarthritis (Stickler syndrome)].
Praxis 2002;91(9):361-6.
2002: Luisa Bonafé; K Schmitt; Georg Eich; Andres Giedion; andrea superti-furga
RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms.
Clinical genetics 2002;61(2):146-51.
2002: N Kölble; D Sobetzko; Jörg Ersch; T Stallmach; G Eich; Renate Huch; Albert Huch; andrea superti-furga; Josef Wisser
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2002;19(1):92-8.
2001: S Unger; M Le Merrer; P Meinecke; D Chitayat; A Rossi; andrea superti-furga
New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias.
Pediatric radiology 2001;31(12):893-4.
2001: Y Gong; R B Slee; N Fukai; G Rawadi; S Roman-Roman; A M Reginato; H Wang; T Cundy; Francis Glorieux; D Lev; M Zacharin; K Oexle; J Marcelino; W Suwairi; S Heeger; G Sabatakos; S Apte; W N Adkins; J Allgrove; M Arslan-Kirchner; J A Batch; P Beighton; G C Black; R G Boles; L M Boon; C Borrone; H G Brunner; G F Carle; B Dallapiccola; A De Paepe; B Floege; M L Halfhide; B Hall; Raoul Hennekam; T Hirose; A Jans; H Jüppner; C A Kim; K Keppler-Noreuil; A Kohlschuetter; D LaCombe; M Lambert; E Lemyre; T Letteboer; L Peltonen; R S Ramesar; M Romanengo; H Somer; E Steichen-Gersdorf; B Steinmann; B Sullivan; andrea superti-furga; W Swoboda; M J van den Boogaard; W Van Hul; M Vikkula; Marcela Votruba; B Zabel; T Garcia; R Baron; B R Olsen; M L Warman
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Cell 2001;107(4):513-23.
2001: Ralph Fingerhut; Wulf Röschinger; Ania C Muntau; T Dame; J Kreischer; Ralf Arnecke; andrea superti-furga; H Troxler; Bernhard Liebl; Bernhard Olgemöller; Adelbert A Roscher
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.
Clinical chemistry 2001;47(10):1763-8.
2001: C Sobacchi; A Frattini; P Orchard; Oscar Porras; I Tezcan; M Andolina; R Babul-Hirji; I Baric; N Canham; D Chitayat; S Dupuis-Girod; I Ellis; A Etzioni; A Fasth; A Fisher; B Gerritsen; V Gulino; E Horwitz; V Klamroth; E Lanino; M Mirolo; A Musio; G Matthijs; S Nonomaya; L D Notarangelo; H D Ochs; andrea superti-furga; J Valiaho; J L van Hove; Mauno Vihinen; D Vujic; P Vezzoni; A Villa
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Human molecular genetics 2001;10(17):1767-73.
2001: U Stucki; MA Spycher; Georg Eich; A Rossi; Peter Sacher; Beat Steinmann; andrea superti-furga
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature.
American journal of medical genetics 2001;100(2):122-9.
2001: A Rossi; andrea superti-furga
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
Human mutation 2001;17(3):159-71.
2001: Frank Rutsch; Sucheta M Vaingankar; Kristen Johnson; Ira D Goldfine; Betty A Maddux; P Schauerte; Hermann Kalhoff; K Sano; William A Boisvert; andrea superti-furga; Robert Terkeltaub
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcification.
The American journal of pathology 2001;158(2):543-54.
2001: andrea superti-furga; L Bonafé; D L Rimoin
Molecular-pathogenetic classification of genetic disorders of the skeleton.
American journal of medical genetics 2001;106(4):282-93.
2001: René Santer; Martina Kinner; M Passarge; andrea superti-furga; Ertan Mayatepek; Thomas Meissner; Reinhard Schneppenheim; Jürgen Schaub
Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
Human genetics 2001;108(1):66-71.
2000: D Sobetzko; S Braga; A Rüdeberg; andrea superti-furga
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected father.
Journal of medical genetics 2000;37(12):958-9.
2000: andrea superti-furga
Otopalatodigital syndrome and frontometaphyseal dysplasia, splitters and lumpers, and paternity of ideas.
American journal of medical genetics 2000;95(1):86.
2000: Ivo Baric; V Skrabic; Davor Begovic; Vladimir Sarnavka; andrea superti-furga
A 17-month-old boy with bowed legs.
European journal of pediatrics 2000;159(11):863-5.
2000: J Faber; Andreas Winterpacht; B Zabel; W Gnoinski; A Schinzel; B Steinmann; andrea superti-furga
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.
Journal of medical genetics 2000;37(4):318-20.
2000: Melanie Pepin; Ulrike Schwarze; andrea superti-furga; Peter H Byers
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.
The New England journal of medicine 2000;342(10):673-80.
2000: Miia Melkoniemi; H G Brunner; Sylvie MANOUVRIER; Raoul Hennekam; andrea superti-furga; Helena Kääriäinen; Richard M Pauli; T van Essen; Matthew L Warman; J Bonaventure; P Miny; Leena Ala-Kokko
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
American journal of human genetics 2000;66(2):368-77.
2000: D Sobetzko; G Eich; M Kalff-Suske; Karl-Heinz Grzeschik; andrea superti-furga
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individual.
American journal of medical genetics 2000;90(3):239-42.
1999: Y Nishi; L Atley; D E Eyre; J G Edelson; andrea superti-furga; T Yasuda; R J Desnick; B D Gelb
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradation.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1999;14(11):1902-8.
1999: Georg Eich; andrea superti-furga; F S Umbricht; Ulrich V Willi
The painful hip: evaluation of criteria for clinical decision-making.
European journal of pediatrics 1999;158(11):923-8.
1999: J R Hurvitz; WM Suwairi; Wim Van Hul; Hatem El-Shanti; andrea superti-furga; Jean Roudier; D Holderbaum; Richard M Pauli; J K Herd; Els Van Hul; H Rezai-Delui; E Legius; M Le Merrer; Jamil R Al-Alami; Sultan A Bahabri; Matthew L Warman
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nature genetics 1999;23(1):94-8.
1999: M Kalff-Suske; A Wild; J Topp; M Wessling; E M Jacobsen; Dorothea Bornholdt; Hartmut Engel; H Heuer; Cora M Aalfs; Margreet G E M Ausems; R Barone; A Herzog; Peter Heutink; T Homfray; Gabriele Gillessen-Kaesbach; Rainer König; Jürgen Kunze; Peter Meinecke; D Müller; R Rizzo; S Strenge; andrea superti-furga; Karl-Heinz Grzeschik
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
Human molecular genetics 1999;8(9):1769-77.
1999: andrea superti-furga; L Neumann; T Riebel; Georg Eich; Beat Steinmann; J Spranger; J Kunze
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.
Journal of medical genetics 1999;36(8):621-4.
1999: André Mégarbané; F A Haddad; S Haddad-Zebouni; M Achram; G Eich; Martine Le Merrer; andrea superti-furga
Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia.
Clinical genetics 1999;56(1):71-6.
1999: Cecilia Giunta; andrea superti-furga; S Spranger; William G Cole; Beat Steinmann
Ehlers-Danlos syndrome type VII: clinical features and molecular defects.
The Journal of bone and joint surgery. American volume 1999;81(2):225-38.
1998: Bassem A Bejjani; Kerby Oberg; Isabelle A. Wilkins; AA Moise; Claire Langston; andrea superti-furga; James R Lupski
Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1.
American journal of medical genetics 1998;79(5):392-5.
1998: Antonio Rossi; I Kaitila; W R Wilcox; D L Rimoin; B Steinmann; Giuseppe Cetta; andrea superti-furga
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Matrix biology : journal of the International Society for Matrix Biology 1998;17(5):361-9.
1998: M Faiyaz ul Haque; Lily M King; Deborah Krakow; R M Cantor; Michael E Rusiniak; Richard T Swank; andrea superti-furga; S Haque; H Abbas; Wasim Ahmad; M Ahmad; Daniel H Cohn
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Nature genetics 1998;20(2):157-62.
1998: Etienne Mornet; Agnès Taillandier; S Peyramaure; F Kaper; Françoise Muller; R Brenner; P Bussière; Peter Freisinger; J Godard; M Le Merrer; J F Oury; H Plauchu; R Puddu; J M Rival; andrea superti-furga; Renaud Touraine; Jean-Louis Serre; Brigitte Simon-Bouy
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.
European journal of human genetics : EJHG 1998;6(4):308-14.
1998: andrea superti-furga; R Tenconi; M Clementi; Georg Eich; Beat Steinmann; Eugen Boltshauser; Andres Giedion
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping".
American journal of medical genetics 1998;78(2):150-4.
1998: Valérie Cormier-Daire; andrea superti-furga; Arnold Munnich; Stanislas LYONNET; P Rustin; Anne-Lise Delezoide; P De Lonlay; Andres Giedion; Pierre Maroteaux; Martine Le Merrer
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.
American journal of medical genetics 1998;78(2):146-9.
1998: I Barić; Johannes Zschocke; E Christensen; M Duran; S I Goodman; J V Leonard; E Müller; D H Morton; andrea superti-furga; Georg F Hoffmann
Diagnosis and management of glutaric aciduria type I.
Journal of inherited metabolic disease 1998;21(4):326-40.
1998: Deborah J Shears; H J Vassal; Frances R Goodman; R W Palmer; William Reardon; andrea superti-furga; Peter J Scambler; Robin M Winter
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Nature genetics 1998;19(1):70-3.
1998: Marianne Schwartz; Ernst Christensen; andrea superti-furga; NJ Brandt
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.
Human genetics 1998;102(4):452-8.
1997: Ester Laubach; MM Ritter; Cecilia Giunta; H Christian Geiss; Erhard Hiller; andrea superti-furga; Peter Schwandt; Beat Steinmann
[46-year-old patient with hemorrhagic diathesis and renal artery aneurysms. Type IV Ehlers-Danlos syndrome].
Der Internist 1997;38(12):1225-30.
1997: andrea superti-furga; G F Hoffmann
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.
European journal of pediatrics 1997;156(11):821-8.
1997: S Kleinle; Ulrich N Wiesmann; andrea superti-furga; Stephan Krähenbühl; E Boltshauser; Jürg Reichen; S Liechti-Gallati
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR.
Human genetics 1997;100(5-6):643-50.
1997: Antonio Rossi; Jacky Bonaventure; Anne-Lise Delezoide; andrea superti-furga; Giuseppe Cetta
Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2.
European journal of biochemistry / FEBS 1997;248(3):741-7.
1997: Bernhard Schmitt; Urs Bauersfeld; Sergio Fanconi; Gabriele Wohlrab; Thierry A G M Huisman; Christine E Bandtlow; P Baumann; andrea superti-furga; E Martin; U Arbenz; L Molinari; M Turina; Eugen Boltshauser; Edith R Schmid
The effect of the N-methyl-D-aspartate receptor antagonist dextromethorphan on perioperative brain injury in children undergoing cardiac surgery with cardiopulmonary bypass: results of a pilot study.
Neuropediatrics 1997;28(4):191-7.
1997: Andres Giedion; Eugen Boltshauser; J Briner; Georg Eich; G Exner; H Fendel; L Kaufmann; Beat Steinmann; J Spranger; andrea superti-furga
Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia.
European journal of pediatrics 1997;156(3):214-23.
1996: A Rossi; H J van der Harten; F A Beemer; W J Kleijer; Richard Gitzelmann; Beat Steinmann; andrea superti-furga
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia.
Human genetics 1996;98(6):657-61.
1996: andrea superti-furga
Achondrogenesis type 1B.
Journal of medical genetics 1996;33(11):957-61.
1996: andrea superti-furga; B Steinmann; G Duc; R Gitzelmann
Microcephaly and maternal phenylketonuria.
European journal of pediatrics 1996;155(11):992.
1996: Antonio Rossi; Jacky Bonaventure; Anne-Lise Delezoide; Giuseppe Cetta; andrea superti-furga
Undersulfation of proteoglycans synthesized by chondrocytes from a patient with achondrogenesis type 1B homozygous for an L483P substitution in the diastrophic dysplasia sulfate transporter.
The Journal of biological chemistry 1996;271(31):18456-64.
1996: Andreas Winterpacht; andrea superti-furga; U Schwarze; H Stöss; B Steinmann; Jürgen Spranger; Bernhard Zabel
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.
Journal of medical genetics 1996;33(8):649-54.
1996: Y Gong; Miikka Vikkula; L Boon; J Liu; P Beighton; R Ramesar; L Peltonen; H Somer; T Hirose; B Dallapiccola; A De Paepe; W Swoboda; B Zabel; andrea superti-furga; B Steinmann; H G Brunner; A Jans; R G Boles; W Adkins; M J van den Boogaard; Bjorn R Olsen; Matthew L Warman
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
American journal of human genetics 1996;59(1):146-51.
1996: andrea superti-furga; J Hästbacka; A Rossi; J J van der Harten; W R Wilcox; Daniel H Cohn; D L Rimoin; Beat Steinmann; Eric S Lander; Richard Gitzelmann
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
Annals of the New York Academy of Sciences 1996;785():195-201.
1996: J Hästbacka; andrea superti-furga; W R Wilcox; D L Rimoin; Daniel H Cohn; Eric S Lander
Sulfate transport in chondrodysplasia.
Annals of the New York Academy of Sciences 1996;785():131-6.
1996: K Mackay; Michael Raghunath; andrea superti-furga; Beat Steinmann; Raymond Dalgleish
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation.
Clinical genetics 1996;49(6):286-95.
1996: Georg F Hoffmann; S Athanassopoulos; A B Burlina; M Duran; J B de Klerk; W Lehnert; J V Leonard; A A Monavari; E Müller; A C Muntau; Eileen Naughten; B Plecko-Starting; andrea superti-furga; Johannes Zschocke; E Christensen
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency.
Neuropediatrics 1996;27(3):115-23.
1996: andrea superti-furga; A Rossi; Beat Steinmann; Richard Gitzelmann
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
American journal of medical genetics 1996;63(1):144-7.
1996: Bernhard Zabel; K Hilbert; H Stöss; andrea superti-furga; Jürgen Spranger; Andreas Winterpacht
A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.
American journal of medical genetics 1996;63(1):123-8.
1996: E Beutler; Terri Gelbart; D Balicki; A Demina; J Adusumalli; Louis J Elsas; K A Grinzaid; R Gitzelmann; andrea superti-furga; C Kattamis; B B Liou
Gaucher disease: four families with previously undescribed mutations.
Proceedings of the Association of American Physicians 1996;108(3):179-84.
1996: F Berthet; C A Siegrist; Hulya Ozsahin; P Tuchschmid; G Eich; andrea superti-furga; Reinhard Seger
Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia.
European journal of pediatrics 1996;155(4):286-90.
1996: J Hästbacka; andrea superti-furga; W R Wilcox; D L Rimoin; Daniel H Cohn; Eric S Lander
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
American journal of human genetics 1996;58(2):255-62.
1996: andrea superti-furga; J Hästbacka; W R Wilcox; Daniel H Cohn; H J van der Harten; A Rossi; N Blau; D L Rimoin; Beat Steinmann; Eric S Lander; Richard Gitzelmann
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Nature genetics 1996;12(1):100-2.
1995: Dieter Kotzot; F Bernasconi; Lukrecija Brecevic; Wendy P Robinson; P Kiss; G Kosztolanyi; Iosif W Lurie; andrea superti-furga; Albert Schinzel
Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus.
European journal of pediatrics 1995;154(6):477-82.
1995: andrea superti-furga; G Eich; Hans Ulrich Bucher; J Wisser; Andres Giedion; Richard Gitzelmann; Beat Steinmann
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
European journal of pediatrics 1995;154(3):215-9.
1995: Georg F Hoffmann; Hansjosef Böhles; A Burlina; M Duran; Jürgen Herwig; Willy Lehnert; J V Leonard; A Muntau; F K Plecko-Starting; andrea superti-furga
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency.
Journal of inherited metabolic disease 1995;18(2):173-6.
1994: andrea superti-furga
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB.
American journal of human genetics 1994;55(6):1137-45.
1994: Michael Raghunath; Beat Steinmann; Celia Delozier-Blanchet; P Extermann; andrea superti-furga
Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies.
Pediatric research 1994;36(4):441-8.
1994: Richard Gitzelmann; Nils U Bosshard; andrea superti-furga; M A Spycher; J Briner; U Wiesmann; H Lutz; B Litschi
Feline mucopolysaccharidosis VII due to beta-glucuronidase deficiency.
Veterinary pathology 1994;31(4):435-43.
1994: Bernhard Schmitt; L Thun-Hohenstein; L Molinari; andrea superti-furga; Eugen Boltshauser
Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 children.
Neuropediatrics 1994;25(2):78-84.
1993: andrea superti-furga; M Rocchi; Beat W Schäfer; R Gitzelmann
Complementary DNA sequence and chromosomal mapping of a human proteoglycan-binding cell-adhesion protein (dermatopontin).
Genomics 1993;17(2):463-7.
1993: M Raghunath; andrea superti-furga; M Godfrey; B Steinmann
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.
Human genetics 1993;90(5):511-5.
1993: andrea superti-furga; Michael Raghunath; F M Pistone; C Romano; Beat Steinmann
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
Connective tissue research 1993;29(1):31-40.
1993: Bernd Hoppe; Thomas J Neuhaus; andrea superti-furga; I Forster; Ernst Leumann
Hypercalciuria and nephrocalcinosis, a feature of Wilson's disease.
Nephron 1993;65(3):460-2.
1993: andrea superti-furga; E Schoenle; P Tuchschmid; RF Caduff; V Sabato; D DeMattia; Richard Gitzelmann; Beat Steinmann
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA.
European journal of pediatrics 1993;152(1):44-50.
1992: andrea superti-furga; Michael Raghunath; P J Willems
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome.
Journal of medical genetics 1992;29(12):875-8.
1992: andrea superti-furga; B Saesseli; B Steinmann; A Bollinger
Microangiopathy in Ehlers-Danlos syndrome type IV.
International journal of microcirculation, clinical and experimental / sponsored by the European Society for Microcirculation 1992;11(3):241-7.
1991: J R Hawkins; andrea superti-furga; Beat Steinmann; Raymond Dalgleish
A 9-base pair deletion in COL1A1 in a lethal variant of osteogenesis imperfecta.
The Journal of biological chemistry 1991;266(33):22370-4.
1991: Beat Steinmann; A Westerhausen; C D Constantinou; andrea superti-furga; Darwin J Prockop
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitution.
The Biochemical journal 1991;279 ( Pt 3)():747-52.
1991: andrea superti-furga; Beat Steinmann; Gabriel Duc; Richard Gitzelmann
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation.
European journal of pediatrics 1991;150(7):493-7.
1991: Henrik Vissing; M D'Alessio; B Lee; Francesco Ramirez; P H Byers; B Steinmann; andrea superti-furga
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.
The Journal of biological chemistry 1991;266(8):5244-8.
1991: B Lee; E Vitale; andrea superti-furga; B Steinmann; Francesco Ramirez
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.
The Journal of biological chemistry 1991;266(8):5256-9.
1991: B Lee; M D'Alessio; Henrik Vissing; Francesco Ramirez; B Steinmann; andrea superti-furga
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.
American journal of human genetics 1991;48(3):511-7.
1991: B Steinmann; andrea superti-furga; Peter Bruckner
Mechanism of action of FK 506 and cyclosporin.
Lancet 1991;337(8738):439.
1991: Beat Steinmann; Peter Bruckner; andrea superti-furga
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomerase.
The Journal of biological chemistry 1991;266(2):1299-303.
1990: K Mackay; J R Hawkins; andrea superti-furga; Beat Steinmann; Raymond Dalgleish
A HaeIII RFLP in COL1A1.
Nucleic acids research 1990;18(19):5926.
1990: F Pendola; C Borrone; Mirella Filocamo; M Lituania; B Steinmann; andrea superti-furga
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfecta.
European journal of pediatrics 1990;149(6):403-5.
1990: andrea superti-furga; B Steinmann; B Lee; F Ramirez; T Lehner; J Ott; A Gaucher; P Moreau; G Weryha
Autosomal dominant spondyloarthropathy: no linkage to the type II collagen gene.
The New England journal of medicine 1990;322(8):552-3.
1989: Beat Steinmann; andrea superti-furga; H I Joller-Jemelka; G Cetta; P H Byers
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagen.
American journal of medical genetics 1989;34(1):68-71.
1989: andrea superti-furga; B Steinmann
Ehlers-Danlos syndrome type IV: another temperature-dependent skin disorder?
Journal of the American Academy of Dermatology 1989;21(2 Pt 1):323.
1989: andrea superti-furga; F Pistone; C Romano; Beat Steinmann
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.
Journal of medical genetics 1989;26(6):358-62.
1989: andrea superti-furga; Beat Steinmann; F Ramirez; P H Byers
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV.
Human genetics 1989;82(2):104-8.
1989: andrea superti-furga; B Steinmann; P H Byers
Type III collagen deficiency.
Lancet 1989;1(8643):903-4.
1988: andrea superti-furga
"Cerebral" lactic acidosis and cerebrospinal fluid pH.
European journal of pediatrics 1988;147(6):667-8.
1988: U A Hunziker; andrea superti-furga; M Zachmann; E Del Pozo; David H Shmerling; A Prader
Effects of the long-acting somatostatin analogue SMS 201-995 in an infant with intractable diarrhea.
Helvetica paediatrica acta 1988;43(1-2):103-9.
1988: andrea superti-furga; E Gugler; R Gitzelmann; Beat Steinmann
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen.
The Journal of biological chemistry 1988;263(13):6226-32.
1988: andrea superti-furga; Beat Steinmann
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the molecule.
Biochemical and biophysical research communications 1988;150(1):140-7.
1988: andrea superti-furga; P M Royce; F M Pistone; C Romano; Beat Steinmann
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfecta.
Annals of the New York Academy of Sciences 1988;543():85-92.
1988: P M Royce; andrea superti-furga; Velidi H Rao; Beat Steinmann
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVB.
Annals of the New York Academy of Sciences 1988;543():83-4.
1988: Beat Steinmann; andrea superti-furga; P M Royce
Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolism.
Annals of the New York Academy of Sciences 1988;543():47-61.
1987: andrea superti-furga; P M Royce; Beat Steinmann
Congenital dopamine beta-hydroxylase deficiency.
Lancet 1987;1(8534):693.
1986: L Garibaldi; andrea superti-furga; C Borrone
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.
The Journal of pediatrics 1986;109(6):1074-5.
1986: andrea superti-furga; B Steinmann; F Perfumo
Osteoporosis-pseudoglioma or osteogenesis imperfecta?
Clinical genetics 1986;29(2):184-5.
1984: M Di Rocco; andrea superti-furga; P Durand; R Cerone; C Romano; C Bachmann; R Baumgartner
Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.
Journal of inherited metabolic disease 1984;7 Suppl 2():119-20.
1983: L R Garibaldi; Silvana Canini; andrea superti-furga; G Lamedica; Mirella Filocamo; N Marchese; C Borrone
Galactosemia caused by generalized uridine diphosphate galactose-4-epimerase deficiency.
The Journal of pediatrics 1983;103(6):927-30.