Andrea Superti-Furga

Andrea Superti-Furga

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Andrea Superti-Furga

Andrea Superti-Furga

Publications by authors named "Andrea Superti-Furga"

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Bone and connective tissue disorders caused by defects in glycosaminoglycan biosynthesis: a panoramic view.

FEBS J 2019 Aug 25;286(15):3008-3032. Epub 2019 Jul 25.

Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, Italy.

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http://dx.doi.org/10.1111/febs.14984DOI Listing
August 2019

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Ophthalmic Genet 2019 Apr 23;40(2):177-181. Epub 2019 Apr 23.

a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.

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http://dx.doi.org/10.1080/13816810.2019.1605391DOI Listing
April 2019

Progressive pseudorheumatoid dysplasia: a rare childhood disease.

Rheumatol Int 2019 Mar 16;39(3):441-452. Epub 2018 Oct 16.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via della Commenda 9, 20122, Milan, Italy.

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http://link.springer.com/10.1007/s00296-018-4170-6
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http://dx.doi.org/10.1007/s00296-018-4170-6DOI Listing
March 2019

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type.

Am J Med Genet A 2018 12 4;176(12):2934-2935. Epub 2018 Oct 4.

Division of Genetic Medicine, Lausanne University Hospital (CHUV), University of Lausanne, Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.40631
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http://dx.doi.org/10.1002/ajmg.a.40631DOI Listing
December 2018

Complex cranio-vertebral malformation: disruption sequence or iniencephaly?

Clin Dysmorphol 2018 Jul;27(3):105-108

Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.

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http://dx.doi.org/10.1097/MCD.0000000000000218DOI Listing
July 2018

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Am J Hum Genet 2017 Oct;101(4):623-629

Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1011 Lausanne, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester LE1 9HN, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173036
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http://dx.doi.org/10.1016/j.ajhg.2017.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630195PMC
October 2017

Genetic disorders of bone - An historical perspective.

Bone 2017 09 27;102:1-4. Epub 2017 Jul 27.

Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.07.025DOI Listing
September 2017

The multiple faces of artwork diagnoses.

Lancet Neurol 2017 06;16(6):417

Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois, University of Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1016/S1474-4422(17)30128-XDOI Listing
June 2017

[Next generation sequencing : a diagnostic tool for inherited immune defects].

Rev Med Suisse 2017 Apr;13(557):763-766

Laboratoire des déficits immunitaires héréditaires, Service d'immunologie et allergie, CHUV et Université de Lausanne, 1011 Lausanne.

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April 2017

Bone Formation and the Wnt Signaling Pathway.

N Engl J Med 2016 11;375(19):1902-1903

Harvard School of Dental Medicine, Boston, MA

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http://dx.doi.org/10.1056/NEJMc1609768DOI Listing
November 2016

Natural history and life-threatening complications in Myhre syndrome and review of the literature.

Eur J Pediatr 2016 Oct 25;175(10):1307-15. Epub 2016 Aug 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1007/s00431-016-2761-3DOI Listing
October 2016

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Am J Med Genet A 2016 06 7;170(6):1626-9. Epub 2016 Apr 7.

Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37645DOI Listing
June 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Am J Med Genet A 2015 Apr 3;167A(4):894-901. Epub 2015 Mar 3.

Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.36954DOI Listing
April 2015

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddu555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321448PMC
March 2015

Significant clinical benefits of molecular studies in the skeletal dysplasias.

Am J Med Genet A 2015 Mar;167A(3):476-7

Department of Pediatrics, University of Lausanne and Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.a.36931
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http://dx.doi.org/10.1002/ajmg.a.36931DOI Listing
March 2015

Positive effects of an angiotensin II type 1 receptor antagonist in Camurati-Engelmann disease: a single case observation.

Am J Med Genet A 2014 Oct 5;164A(10):2667-71. Epub 2014 Aug 5.

Unit of Pediatric Genetics Department of Pediatrics, Hacettepe University Medical Faculty, Ankara, Turkey; Division of Molecular Pediatrics Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36692DOI Listing
October 2014

Cono-spondylar dysplasia: clinical, radiographic, and molecular findings of a previously unreported disorder.

Am J Med Genet A 2014 Sep 26;164A(9):2147-52. Epub 2014 Jun 26.

Department of Pediatrics, Section of Clinical and Metabolic Genetics, Hamad Medical Corporation, Doha, Qatar.

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http://doi.wiley.com/10.1002/ajmg.a.36632
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http://dx.doi.org/10.1002/ajmg.a.36632DOI Listing
September 2014

Acampomelic form of campomelic dysplasia with SOX9 missense mutation.

Indian J Pediatr 2014 Jan 7;81(1):98-100. Epub 2013 Apr 7.

Department of Pediatrics and Neonatology, Amrita Institute of Medical Sciences and Researh Centre, Cochin, Kerala, India.

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http://dx.doi.org/10.1007/s12098-013-1007-xDOI Listing
January 2014

Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.

Am J Med Genet A 2013 Dec 16;161A(12):3161-5. Epub 2013 Aug 16.

Division of Molecular Pediatrics, Department of Pediatrics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36173DOI Listing
December 2013

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.

Am J Med Genet A 2013 Nov 7;161A(11):2894-901. Epub 2013 Oct 7.

Clinical Genetics Unit, Obstetric and Paediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale S Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36259DOI Listing
November 2013

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome.

Proc Natl Acad Sci U S A 2013 Nov 11;110(48):19525-30. Epub 2013 Nov 11.

P2I2 Group, Protein Phosphorylation and Human Disease Unit, Station Biologique, Centre National de la Recherche Scientifique (CNRS), Unité de Service et de Recherche USR3151, 29680 Roscoff, France.

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http://dx.doi.org/10.1073/pnas.1306814110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3845122PMC
November 2013

Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.

Am J Med Genet A 2013 Oct 15;161A(10):2614-9. Epub 2013 Aug 15.

Laboratory of Genetic Disorders of Childhood, A. Nocivelli Institute for Molecular Medicine, Department of Pathology, Spedali Civili, Brescia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36115DOI Listing
October 2013

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

Am J Med Genet A 2013 Sep 2;161A(9):2216-25. Epub 2013 Aug 2.

Institute of Medical Genetics, Department of Pediatrics, University of Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.36062DOI Listing
September 2013

In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy.

Hum Mutat 2013 Jul 19;34(7):1005-17. Epub 2013 Apr 19.

Global Health Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/humu.22324DOI Listing
July 2013

Focal dermal hypoplasia (Goltz-Gorlin syndrome): a new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.

Am J Med Genet A 2013 Jul 21;161A(7):1750-4. Epub 2013 May 21.

Clinical Genetics Unit, Obstetric and Pediatric Department, Istituto di Ricovero e Cura a Carattere Scientifico, Arcispedale Santa Maria Nuova, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35964DOI Listing
July 2013

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Ital J Pediatr 2013 Mar 21;39:21. Epub 2013 Mar 21.

Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Piazzale C, Golgi 2, Pavia 27100, Italy.

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http://dx.doi.org/10.1186/1824-7288-39-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608257PMC
March 2013

[Progress in the management of psychosocial problems in pediatrics].

Rev Med Suisse 2013 Feb;9(374):395-6

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February 2013

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.

Skeletal Radiol 2012 Nov 26;41(11):1479-87. Epub 2012 May 26.

Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea.

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http://dx.doi.org/10.1007/s00256-012-1442-1DOI Listing
November 2012

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.

Am J Med Genet A 2012 Sep 17;158A(9):2245-9. Epub 2012 Jul 17.

Clinical Genetics Unit-Obstetric and Pediatric Department, Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35474DOI Listing
September 2012

Enchondromatosis revisited: new classification with molecular basis.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):154-64. Epub 2012 Jul 12.

Department of Pediatrics, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

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http://doi.wiley.com/10.1002/ajmg.c.31331
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http://dx.doi.org/10.1002/ajmg.c.31331DOI Listing
August 2012

TRPV4-associated skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):190-204. Epub 2012 Jul 12.

Génétique Médicale, CHUV, Av. Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31335DOI Listing
August 2012

New topics in the skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):143-4. Epub 2012 Jul 12.

Department of Genetics, University of Lausanne, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31338DOI Listing
August 2012

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012

The dark sides of capillary morphogenesis gene 2.

EMBO J 2012 Jan 6;31(1):3-13. Epub 2011 Dec 6.

Ecole Polytechnique Fédérale de Lausanne, Institute of Global Health, Lausanne, Switzerland.

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http://dx.doi.org/10.1038/emboj.2011.442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3252584PMC
January 2012