Grazia M S Mancini

Grazia M S Mancini

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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 Sep;21(9):2160-2161

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0368-yDOI Listing
September 2019

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals.

Neurology 2019 Sep 4. Epub 2019 Sep 4.

From the Department of Clinical Genetics (R.O., G.M.S.M.), Erasmus MC University Medical Center, Rotterdam; Department of Genetics (R.O.), University Medical Center Utrecht, the Netherlands; Departments of Radiology and Biomedical Imaging and Neurology and Neurology (A.J.B.), University of California, San Francisco; Department of Neuroscience, Pharmacology and Child Health (R.G.), Children's Hospital A. Meyer and University of Florence, Italy; Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute; and Departments of Pediatrics and Neurology (W.B.D.), University of Washington, Seattle.

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http://dx.doi.org/10.1212/WNL.0000000000008200DOI Listing
September 2019

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Cell Rep 2019 Aug;28(6):1596-1611.e10

INSERM U 1270, Paris, France; Sorbonne University, UMR-S 1270, 75005 Paris, France; Institut du Fer à Moulin, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.06.096DOI Listing
August 2019

Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

Parkinsonism Relat Disord 2019 Jul 31. Epub 2019 Jul 31.

Erasmus MC, University Medical Center, Rotterdam, the Netherlands, Department of Clinical Genetics. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2019.07.033DOI Listing
July 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:
Pleuntje J van der Sluijs Sandra Jansen Samantha A Vergano Miho Adachi-Fukuda Yasemin Alanay Adila AlKindy Anwar Baban Allan Bayat Stefanie Beck-Wödl Katherine Berry Emilia K Bijlsma Levinus A Bok Alwin F J Brouwer Ineke van der Burgt Philippe M Campeau Natalie Canham Krystyna Chrzanowska Yoyo W Y Chu Brain H Y Chung Karin Dahan Marjan De Rademaeker Anne Destree Tracy Dudding-Byth Rachel Earl Nursel Elcioglu Ellen R Elias Christina Fagerberg Alice Gardham Blanca Gener Erica H Gerkes Ute Grasshoff Arie van Haeringen Karin R Heitink Johanna C Herkert Nicolette S den Hollander Denise Horn David Hunt Sarina G Kant Mitsuhiro Kato Hülya Kayserili Rogier Kersseboom Esra Kilic Malgorzata Krajewska-Walasek Kylin Lammers Lone W Laulund Damien Lederer Melissa Lees Vanesa López-González Saskia Maas Grazia M S Mancini Carlo Marcelis Francisco Martinez Isabelle Maystadt Marianne McGuire Shane McKee Sarju Mehta Kay Metcalfe Jeff Milunsky Seiji Mizuno John B Moeschler Christian Netzer Charlotte W Ockeloen Barbara Oehl-Jaschkowitz Nobuhiko Okamoto Sharon N M Olminkhof Carmen Orellana Laurent Pasquier Caroline Pottinger Vera Riehmer Stephen P Robertson Maian Roifman Caroline Rooryck Fabienne G Ropers Monica Rosello Claudia A L Ruivenkamp Mahmut S Sagiroglu Suzanne C E H Sallevelt Amparo Sanchis Calvo Pelin O Simsek-Kiper Gabriela Soares Lucia Solaeche Fatma Mujgan Sonmez Miranda Splitt Duco Steenbeek Alexander P A Stegmann Constance T R M Stumpel Saori Tanabe Eyyup Uctepe G Eda Utine Hermine E Veenstra-Knol Sunita Venkateswaran Catheline Vilain Catherine Vincent-Delorme Anneke T Vulto-van Silfhout Patricia Wheeler Golder N Wilson Louise C Wilson Bernd Wollnik Tomoki Kosho Dagmar Wieczorek Evan Eichler Rolph Pfundt Bert B A de Vries Jill Clayton-Smith Gijs W E Santen

Genet Med 2019 06 8;21(6):1295-1307. Epub 2018 Nov 8.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://www.nature.com/articles/s41436-018-0330-z
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http://dx.doi.org/10.1038/s41436-018-0330-zDOI Listing
June 2019

A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.

Genet Med 2019 03 15;21(3):572-579. Epub 2018 Jun 15.

Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0079-4DOI Listing
March 2019

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

Heart Rhythm 2019 Feb 28;16(2):220-228. Epub 2018 Aug 28.

AMC Heart Center, Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands; Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2018.08.025DOI Listing
February 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 Jan 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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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.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

Neuro-MIG: A European network on brain malformations.

Eur J Med Genet 2018 Dec 25;61(12):741-743. Epub 2018 Jul 25.

Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2018.07.011DOI Listing
December 2018

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://doi.wiley.com/10.1002/mgg3.387
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http://dx.doi.org/10.1002/mgg3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014478PMC
May 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.

PLoS Genet 2018 04 26;14(4):e1007363. Epub 2018 Apr 26.

Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940238PMC
April 2018

Mixoploidy combined with aneuploidy in a 13 year-old patient with severe multiple congenital abnormalities and intellectual disability.

Am J Med Genet A 2018 02 11;176(2):492-495. Epub 2017 Dec 11.

Department of Clinical Genetics, Sophia Children's Hospital, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38553DOI Listing
February 2018

Altered synaptobrevin-II trafficking in neurons expressing a synaptophysin mutation associated with a severe neurodevelopmental disorder.

Neurobiol Dis 2017 Dec 5;108:298-306. Epub 2017 Sep 5.

Centre for Integrative Physiology, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, United Kingdom; Simonds Initiative for the Developing Brain, Hugh Robson Building, University of Edinburgh, Edinburgh EH8 9XD, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.08.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673032PMC
December 2017

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

Eur J Med Genet 2017 Oct 27;60(10):536-540. Epub 2017 Jul 27.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands; Department of Medical Genetics, St George's University of London, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.011DOI Listing
October 2017

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Neurology 2016 Mar 3;86(9):877-8. Epub 2016 Feb 3.

From Erasmus University Medical Center (G.M.S.M., R.S., M.C.Y.d.W., R.F.d.C., R.O., K.B.-d.H., L.P.V.B., F.A.T.d.V., M.W., M.A.v.S.), Rotterdam; and Utrecht University Medical Center (M.H.L.), the Netherlands. L.P.V.B. is currently affiliated with the Department of Medical Genetics, University Medical Center Groningen, the Netherlands.

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http://www.neurology.org/content/early/2016/02/03/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000242
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http://dx.doi.org/10.1212/WNL.0000000000002422DOI Listing
March 2016

The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder.

Brain Dev 2016 Jan 28;38(1):124-7. Epub 2015 Jun 28.

Ege University Medical Faculty, Department of Pediatrics, Division of Child Neurology, Izmir, Turkey.

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http://dx.doi.org/10.1016/j.braindev.2015.06.004DOI Listing
January 2016

Contiguous mutation syndrome in the era of high-throughput sequencing.

Mol Genet Genomic Med 2015 May 18;3(3):215-20. Epub 2015 Mar 18.

INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital 75015, Paris, France.

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http://dx.doi.org/10.1002/mgg3.134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444163PMC
May 2015

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia.

Mol Genet Metab 2015 Mar 5;114(3):467-73. Epub 2014 Dec 5.

Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.11.018DOI Listing
March 2015

A single strand that links multiple neuropathologies in human disease.

Brain 2014 Apr 5;137(Pt 4):e266. Epub 2013 Aug 5.

Department of Clinical Genetics, Erasmus MC, University Medical Centre Rotterdam, The Netherlands.

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http://dx.doi.org/10.1093/brain/awt197DOI Listing
April 2014

A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.

Am J Med Genet A 2014 Jan 15;164A(1):194-8. Epub 2013 Nov 15.

Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36202DOI Listing
January 2014

Behavioural phenotype of a patient with a de novo 1.2 Mb chromosome 4q25 microdeletion.

Eur J Med Genet 2013 Jun 29;56(6):331-5. Epub 2013 Mar 29.

Vincent van Gogh Institute for Psychiatry, Centre of Excellence for Neuropsychiatry, Venray, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2013.03.012DOI Listing
June 2013

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Am J Med Genet A 2013 Jun 23;161A(6):1376-80. Epub 2013 Apr 23.

Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35858DOI Listing
June 2013

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Am J Med Genet A 2012 Jun 14;158A(6):1472-6. Epub 2012 May 14.

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.35365DOI Listing
June 2012

Neurological findings in incontinentia pigmenti; a review.

Eur J Med Genet 2012 May 4;55(5):323-31. Epub 2012 May 4.

Dept. of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 50, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.007DOI Listing
May 2012

Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood.

Ann Neurol 2012 Apr 23;71(4):439-41. Epub 2012 Mar 23.

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http://dx.doi.org/10.1002/ana.23544DOI Listing
April 2012

Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.

Dev Med Child Neurol 2011 May 17;53(5):417-21. Epub 2011 Mar 17.

Department of Neurology and Paediatric Neurology, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1111/j.1469-8749.2011.03937.xDOI Listing
May 2011

The clinical spectrum of complete FBN1 allele deletions.

Eur J Hum Genet 2011 Mar 10;19(3):247-52. Epub 2010 Nov 10.

Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2010.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061999PMC
March 2011

Combined cardiological and neurological abnormalities due to filamin A gene mutation.

Clin Res Cardiol 2011 Jan 22;100(1):45-50. Epub 2010 Aug 22.

Department of Neurology, Erasmus MC, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00392-010-0206-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3022162PMC
January 2011

Is hearing loss a feature of Joubert syndrome, a ciliopathy?

Int J Pediatr Otorhinolaryngol 2010 Sep 29;74(9):1034-8. Epub 2010 Jun 29.

Dept. of Medical Genetics, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ijporl.2010.05.034DOI Listing
September 2010

KBG syndrome associated with periventricular nodular heterotopia.

Clin Dysmorphol 2010 Jul;19(3):164-5

Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1097/MCD.0b013e3283387b3bDOI Listing
July 2010

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification.

Arch Neurol 2008 Mar;65(3):358-66

Department of Pediatric neurology, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1001/archneur.65.3.358DOI Listing
March 2008

A case of split notochord syndrome: a child with a neuroenteric fistula presenting with meningitis.

J Pediatr Surg 2006 Dec;41(12):e19-23

Department of Pediatric Surgery, Erasmus Medical Center/Sophia Children's Hospital, 3000 CB Rotterdam, the Netherlands.

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http://dx.doi.org/10.1016/j.jpedsurg.2006.09.070DOI Listing
December 2006

Re: polymicrogyria versus pachygyria in 22q11 microdeletion.

Am J Med Genet A 2005 Aug;136A(4):419; author reply 420-1

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http://dx.doi.org/10.1002/ajmg.a.30741DOI Listing
August 2005

Three new families with arterial tortuosity syndrome.

Am J Med Genet A 2004 Dec;131(2):134-43

Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.30272DOI Listing
December 2004

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland.

Pediatr Int 2003 Apr;45(2):199-200

Department of Metabolic Diseases, The Children's Memorial Health Institute, Warsaw, Poland.

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April 2003

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

AJNR Am J Neuroradiol 2003 Mar;24(3):398-400

Department of Radiology, Azienda Ospedaliera Istituti Clinici di Perfezionamento, Milano, Italy.

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March 2003