Publications by authors named "Loreto Martorell"

37Publications

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity.

Am J Hum Genet 2020 10 9;107(4):753-762. Epub 2020 Sep 9.

Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven, Herestraat 49, 3000 Leuven, Belgium. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2020.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536573PMC
October 2020

Okur-Chung neurodevelopmental syndrome in a patient from Spain.

Am J Med Genet A 2020 01 15;182(1):20-24. Epub 2019 Nov 15.

Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61405DOI Listing
January 2020

A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.

J Neurol Sci 2019 Feb 23;397:135-137. Epub 2018 Dec 23.

INGEMM/IdIPAZ/CIBERER, Hospital Universitario La Paz, Madrid, Spain. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2018.12.031DOI Listing
February 2019

Mutation of PACS1: the milder end of the spectrum.

Clin Dysmorphol 2018 Oct;27(4):148-150

Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000237DOI Listing
October 2018

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Circulation 2017 Sep 7;136(11):1037-1048. Epub 2017 Jul 7.

From Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium (M.A., R.H., M.V.); Center for Human Genetics, Cliniques Universitaires St Luc, Université catholique de Louvain, Brussels, Belgium (N.R.); Université catholique de Louvain, Brussels, Belgium (E.P.); Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain (E.B.); Department of Dermatology, Hospital Garrahan, Buenos Aires, Argentina (M.C.); Strong Hospital, University of Rochester School of Medicine and Dentistry, Rochester, NY (M.C.); Departments of Pediatrics and Medicine, Columbia University, New York (W.C., A.B.); Department of Medical Imaging, Sainte-Justine Mother- Child University Hospital, Montreal, Canada (J.D.); Service de Dermatologie, Centre Hospitalo-Universitaire de Nice, France (J.-P.L.); Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain (L.M.); Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France (J.M.-H.); Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (R.E.P.); Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia (D.J.A.); Department of Neuroradiology, Lariboisière Hospital, Paris, France (A.B.); Vascular Anomalies Program, Lenox Hill Hospital, New York (F.B.); Vascular Birthmark Institute of New York, Roosevelt Hospital (F.B.); Department of Pediatrics, Medical Genetics University of Iowa Carver College of Medicine, Iowa City (H.B.); Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, France (A.D.); Department of Urology, Wake Forest School of Medicine, Winston Salem, NC (D.B.); Genetics Service, Paediatric Department, University Hospital Santa Maria, Lisbon, Portugal (J.D.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (M.A.G.-E.); Departement of Dermatology, School of Medicine, University of California, San Francisco (I.P.); Department of Genetics, University Hospital, Caen, France (M.G.); Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden (M.K.); Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, CA (A.K.H.-K., L.H.); Hopital Pellegrin Enfants, Bordeaux, France (C.L.-L.); Hôpital Sainte-Justine, Montréal, Quebec, Canada (C.M.); Department of Dermatology, Texas Children's Hospital, Houston (D.M.); Département de Pédiatrie et Génétique Médicale, CHRU Hôpital Morvan, Brest, France (P.P.); Department of Dermatology, Paul Sabatier University, Toulouse, France (C.P.); Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France (F.P.); Pediatric Dermatology Unit, Claude Bernard-Lyon, University and Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, France (A.P.); Centre Hospitalier Universitaire, Montpellier, France (I.Q.); Dermatolgie, Faculté de Médecine d'Alger, Algeria (A.S.); Department of Medical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia (A.T.); Service de Dermatologie, Centre Hospitalo-Universitaire Dijon-Bourgogne, France (P.V.); Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain (A.V.); Department of Paediatric Dermatology, Sydney Children's Hospital, School of Women's and Children's Health University of New South Wales, Sydney, Australia (O.W.); Department of Plastic and Reconstructive Surgery, University of Tokyo, Hongo, Japan (S.W.); Department of Pediatric Dermatology, University Children's Hospital Zurich, Switzerland (L.W.); Children's Hospital of New York (A.W.); University of Iowa Hospitals and Clinics, Iowa City (M.W.); Department of Pediatrics, Washington University, St. Louis, MO (M.W.); and Vascular Anomalies Center, Boston Children's Hospital, Harvard Medical School, Boston, MA (L.M.B.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCULATIONAHA.116.026886DOI Listing
September 2017

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Neurology 2016 Sep 24;87(12):1250-7. Epub 2016 Aug 24.

From the Neuromuscular Unit, Neurology Department (R.F.-T., M.M., J.-J.P., J.-B.E., A.L.d.M.), and Department of Pathology (I.R.), Donostia Universitary Hospital, San Sebastian; Neurosciences Area (R.F.-T., M.Z., D.O., A.L.d.M.) and Oncology Area (M.G.-P., A.M.), Biodonostia Institute, San Sebastian; Center for Biomedical Research Network in Neurodegenerative Diseases (CIBERNED) (R.F.-T., A.L.d.M.), Institute Carlos III, Ministry of Economy and Competitiveness; Clinical Epidemiology Unit (J.-I.E.), Donostia Universitary Hospital, CIBER-ESP, San Sebastian, Spain; Neuromuscular Area (A.-M.C.), AP-HP Hôpital Marin de Hendaye, France; Molecular Genetics Section (L.M.), Hospital Sant Joan de Deu, Barcelona; and Department of Neurosciences (A.L.d.M.), University of the Basque Country, UPV/EHU, San Sebastian, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003124DOI Listing
September 2016

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

J Neurodev Disord 2014 30;6(1):24. Epub 2014 Jul 30.

Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 2700 Stockton Blvd., Suite 2102, Sacramento, CA 95817, USA ; MIND Institute, University of California, Davis, School of Medicine, Davis, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1866-1955-6-24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126815PMC
August 2014

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Med Clin (Barc) 2014 Jul 24;143(1):25-8. Epub 2014 Apr 24.

Servicio de Neurología Infantil, Hospital Infantil Universitario La Paz, Madrid, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.medcli.2014.01.036DOI Listing
July 2014

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Clin Rheumatol 2012 Nov 18;31(11):1611-5. Epub 2012 Aug 18.

Molecular Genetics Section, Hospital Sant Joan de Deu, Edifici docent C/ Santa Rosa 39, 08950 Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10067-012-2052-yDOI Listing
November 2012

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

Mov Disord 2012 Sep 6;27(10):1295-8. Epub 2012 Jul 6.

Child Neurology and Radiology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25008DOI Listing
September 2012

Genotype and phenotype study of 34 Spanish patients diagnosed with oculopharyngeal muscular dystrophy.

J Neurol 2012 Aug 10;259(8):1546-52. Epub 2012 Jan 10.

Molecular Genetics Department, Hospital Sant Joan de Déu, C/Santa Rosa 39, (Edifici docent), 08950 Esplugues, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00415-011-6374-5DOI Listing
August 2012

Predisposition to epilepsy in fragile X syndrome: does the Val66Met polymorphism in the BDNF gene play a role?

Epilepsy Behav 2011 Nov 3;22(3):581-3. Epub 2011 Sep 3.

Molecular Genetics Section, Hospital Sant Joan de Déu, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yebeh.2011.08.003DOI Listing
November 2011

Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.

Am J Med Genet A 2011 Sep 10;155A(9):2105-11. Epub 2011 Aug 10.

Genetics Unit, MassGeneral Hospital for Children, Harvard Medical School Genetics Training Program, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34156DOI Listing
September 2011

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment.

Brain Dev 2012 Mar 8;34(3):255-7. Epub 2011 May 8.

Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona University, CIBER-ER, Biomedical Network Research Centre on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2011.04.007DOI Listing
March 2012

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

Am J Med Genet A 2010 Dec;152A(12):3101-6

Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33514DOI Listing
December 2010

Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.

Eur J Paediatr Neurol 2008 Nov 30;12(6):470-5. Epub 2008 Jan 30.

Neuropediatrics Department, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2007.11.006DOI Listing
November 2008

Homozygosity for MECP2 gene in a girl with classical Rett syndrome.

Eur J Med Genet 2007 Nov-Dec;50(6):465-8. Epub 2007 Aug 6.

Clinical Department of Pediatrics, Medical University Innsbruck, Anichstrasse 35, A-6020 Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2007.07.001DOI Listing
March 2008