Marco Tartaglia

Marco Tartaglia

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Marco Tartaglia

Marco Tartaglia

Publications by authors named "Marco Tartaglia"

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

POGZ-related epilepsy: Case report and review of the literature.

Am J Med Genet A 2019 Aug 28;179(8):1631-1636. Epub 2019 May 28.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.61206
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http://dx.doi.org/10.1002/ajmg.a.61206DOI Listing
August 2019

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Clin Genet 2019 Aug 25. Epub 2019 Aug 25.

Dipartimento Pediatrie Specialistiche, U. O. Reumatologia, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13632DOI Listing
August 2019

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.

Orphanet J Rare Dis 2019 Jul 5;14(1):163. Epub 2019 Jul 5.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital and Research Institute, Viale di San Paolo 15, 00146, Rome, Italy.

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http://dx.doi.org/10.1186/s13023-019-1151-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610955PMC
July 2019

Copy number variants in autism spectrum disorders.

Prog Neuropsychopharmacol Biol Psychiatry 2019 06 20;92:421-427. Epub 2019 Feb 20.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.pnpbp.2019.02.012DOI Listing
June 2019

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Am J Med Genet A 2019 Jun 10;179(6):940-947. Epub 2019 Mar 10.

Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.61111DOI Listing
June 2019

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism.

Parkinsonism Relat Disord 2019 Apr 11;61:207-210. Epub 2018 Oct 11.

Department of Human Neuroscience - Unit of Child Neurology and Psychiatry, Sapienza University, Rome, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020183044
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http://dx.doi.org/10.1016/j.parkreldis.2018.10.012DOI Listing
April 2019

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 Apr 28;95(4):525-531. Epub 2019 Feb 28.

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

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http://dx.doi.org/10.1111/cge.13516DOI Listing
April 2019

Anti-Hypothalamus and Anti-Pituitary Auto-antibodies in ROHHAD Syndrome: Additional Evidence Supporting an Autoimmune Etiopathogenesis.

Horm Res Paediatr 2019 Apr 30:1-9. Epub 2019 Apr 30.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1159/000499163DOI Listing
April 2019

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

Acta Derm Venereol 2019 02;99(2):238-239

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital-IRCCS, Piazza S. Onofrio 4, IT-00165 Rome, Italy.

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http://dx.doi.org/10.2340/00015555-3046DOI Listing
February 2019

Colorectal cancer spheroid biobanks: multi-level approaches to drug sensitivity studies.

Cell Biol Toxicol 2018 12 24;34(6):459-469. Epub 2018 Feb 24.

Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.

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http://link.springer.com/10.1007/s10565-018-9423-3
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http://dx.doi.org/10.1007/s10565-018-9423-3DOI Listing
December 2018

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

Neurobehavioral features in individuals with Kabuki syndrome.

Mol Genet Genomic Med 2018 05 13;6(3):322-331. Epub 2018 Mar 13.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/mgg3.348DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014453PMC
May 2018

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

Heart Fail Clin 2018 Apr;14(2):225-235

Pediatric Cardiology, Department of Pediatrics, Sapienza University, Viale Regina Elena 324, Rome 00161, Italy.

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http://dx.doi.org/10.1016/j.hfc.2017.12.005DOI Listing
April 2018

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Clin Genet 2018 02 25;93(2):401-407. Epub 2017 Apr 25.

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

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http://dx.doi.org/10.1111/cge.13029DOI Listing
February 2018

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients.

Immunol Lett 2018 02 24;194:40-43. Epub 2017 Dec 24.

University of Torino, Department of Public Health and Pediatrics, Piazza Polonia 94, Turin, 10126, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.imlet.2017.12.006DOI Listing
February 2018

Psychopathological features in Noonan syndrome.

Eur J Paediatr Neurol 2018 Jan 28;22(1):170-177. Epub 2017 Sep 28.

Department of Neuroscience, Unit of Child Neuropsychiatry, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.09.009DOI Listing
January 2018

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

A syndromic extreme insulin resistance caused by biallelic mutations in exon 10.

Eur J Endocrinol 2017 Nov 17;177(5):K21-K27. Epub 2017 Aug 17.

Department of Medical Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1530/EJE-17-0431DOI Listing
November 2017

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene 2017 Sep 8;628:141-145. Epub 2017 Jul 8.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352PMC
September 2017

Congenital heart disease and genetic syndromes: new insights into molecular mechanisms.

Expert Rev Mol Diagn 2017 09 3;17(9):861-870. Epub 2017 Aug 3.

b Department of Pediatrics , Sapienza University , Rome , Italy.

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http://dx.doi.org/10.1080/14737159.2017.1360766DOI Listing
September 2017

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017

Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome.

Am J Med Genet A 2017 Jul 30;173(7):1896-1902. Epub 2017 Apr 30.

Department of Translational Medical Sciences, Section of Pediatrics, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38124DOI Listing
July 2017

Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

Am J Med Genet A 2017 Jul 7;173(7):1965-1969. Epub 2017 May 7.

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

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http://dx.doi.org/10.1002/ajmg.a.38255DOI Listing
July 2017

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

Brain 2017 06;140(6):e34

Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/awx083DOI Listing
June 2017

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Eur J Paediatr Neurol 2017 May 19;21(3):475-484. Epub 2016 Dec 19.

University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.12.005DOI Listing
May 2017

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation.

Oncotarget 2017 Mar;8(10):16744-16754

Unit of Cellular Networks and Molecular Therapeutic Targets, Department of Research, Advanced Diagnostics, and Technological Innovation, Regina Elena National Cancer Institute - IRCCS, Rome, Italy.

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http://dx.doi.org/10.18632/oncotarget.14421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369998PMC
March 2017

Congenital heart defects in Noonan syndrome and RIT1 mutation.

Genet Med 2016 12 29;18(12):1320. Epub 2016 Sep 29.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1038/gim.2016.137DOI Listing
December 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

Differential Effects of HRAS Mutation on LTP-Like Activity Induced by Different Protocols of Repetitive Transcranial Magnetic Stimulation.

Brain Stimul 2016 Jan-Feb;9(1):33-8. Epub 2015 Sep 2.

Institute of Neurology, Campus Biomedico University, Rome, Italy; Fondazione Alberto Sordi - Research Institute for Ageing, Rome, Italy.

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http://dx.doi.org/10.1016/j.brs.2015.08.012DOI Listing
September 2016

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Am J Med Genet A 2016 09 20;170(9):2389-93. Epub 2016 Jun 20.

Genetic Disorders and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37681DOI Listing
September 2016

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Hum Mol Genet 2016 09 27;25(17):3824-3835. Epub 2016 Jul 27.

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

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http://dx.doi.org/10.1093/hmg/ddw229DOI Listing
September 2016

Understanding Growth Failure in Costello Syndrome: Increased Resting Energy Expenditure.

J Pediatr 2016 Mar 9;170:322-4. Epub 2016 Jan 9.

Center for Rare Diseases, Department of Pediatrics, Catholic University, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2015.11.076DOI Listing
March 2016

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

Am J Med Genet A 2015 Nov 31;167A(11):2786-94. Epub 2015 Jul 31.

Pediatric Endocrinology and Rare Diseases Unit, Department of Pediatrics, S.Orsola-Malpighi University Hospital-University of Bologna, Bologna, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37260DOI Listing
November 2015

Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.

J Biol Chem 2015 Nov 7;290(48):29022-34. Epub 2015 Oct 7.

From the Ludwig Institute for Cancer Research, Brussels Branch and the de Duve Institute, Université Catholique de Louvain, 1200 Brussels, Belgium, the Hematology Unit, Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium, and

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http://dx.doi.org/10.1074/jbc.M115.670224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4661414PMC
November 2015

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

Cell Rep 2015 Oct 8;13(3):504-515. Epub 2015 Oct 8.

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618050PMC
October 2015

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

Hum Mol Genet 2015 Aug 29;24(15):4198-211. Epub 2015 Apr 29.

Department of Haematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161 Rome, Italy,

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http://dx.doi.org/10.1093/hmg/ddv153DOI Listing
August 2015

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Prog Pediatr Cardiol 2015 Jul;39(1):13-19

Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.

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http://dx.doi.org/10.1016/j.ppedcard.2015.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4568836PMC
July 2015

Behavioral phenotype in Costello syndrome with atypical mutation: a case report.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 4;168B(1):66-71. Epub 2014 Nov 4.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.b.32279DOI Listing
January 2015

Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

Am J Med Genet A 2014 Dec 20;164A(12):3120-5. Epub 2014 Oct 20.

Department of Paediatrics, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36697DOI Listing
December 2014

Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitors.

Blood 2014 Dec 28;124(26):3924-31. Epub 2014 Oct 28.

Ludwig Institute for Cancer Research, Brussels Branch, Belgium; de Duve Institute, Université Catholique de Louvain, Brussels, Belgium;

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http://dx.doi.org/10.1182/blood-2014-05-576652DOI Listing
December 2014

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Hum Mol Genet 2014 Nov 12;23(21):5814-26. Epub 2014 Jun 12.

Department of Haematology, Oncology and Molecular Medicine,

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http://dx.doi.org/10.1093/hmg/ddu299DOI Listing
November 2014

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

Am J Med Genet A 2014 Sep 28;164A(9):2351-5. Epub 2014 May 28.

Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.36620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4134745PMC
September 2014

Mutations in ZBTB20 cause Primrose syndrome.

Nat Genet 2014 Aug 13;46(8):815-7. Epub 2014 Jul 13.

1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].

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http://dx.doi.org/10.1038/ng.3035DOI Listing
August 2014

Novel SMAD4 mutation causing Myhre syndrome.

Am J Med Genet A 2014 Jul 8;164A(7):1835-40. Epub 2014 Apr 8.

Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36544DOI Listing
July 2014