Publications by authors named "Sergio B Sousa"

26Publications

Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).

Am J Med Genet A 2020 Sep 6;182(9):2129-2132. Epub 2020 Jul 6.

Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.61731DOI Listing
September 2020

Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects.

Hum Mutat 2017 12 21;38(12):1731-1739. Epub 2017 Sep 21.

IRIBHM, Campus Erasme, ULB Bâtiment C, Bruxelles, Belgium.

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http://dx.doi.org/10.1002/humu.23321DOI Listing
December 2017

Phenotype and genotype in Nicolaides-Baraitser syndrome.

Am J Med Genet C Semin Med Genet 2014 Sep 28;166C(3):302-14. Epub 2014 Aug 28.

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http://dx.doi.org/10.1002/ajmg.c.31409DOI Listing
September 2014

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

Am J Med Genet A 2013 Oct 15;161A(10):2401-6. Epub 2013 Aug 15.

Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal; Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/ajmg.a.36124
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http://dx.doi.org/10.1002/ajmg.a.36124DOI Listing
October 2013

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Am J Med Genet A 2011 May 11;155A(5):1178-83. Epub 2011 Apr 11.

Department of Medical Genetics, Université Paris Descartes, INSERM U, Hôpital Necker-Enfants Malades, France.

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http://dx.doi.org/10.1002/ajmg.a.33813DOI Listing
May 2011

Novel deletion encompassing exons 5-12 of the UBE3A gene in a girl with Angelman syndrome.

Eur J Med Genet 2011 May-Jun;54(3):348-50. Epub 2011 Mar 10.

Department of Clinical Genetics, Coimbra Paediatrics Hospital, Coimbra 3000-076, Portugal.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110003
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http://dx.doi.org/10.1016/j.ejmg.2011.02.010DOI Listing
September 2011

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

Am J Med Genet A 2010 Mar;152A(3):539-46

Département de Génétique et INSERM U781, AP-HP, Hôpital Necker Enfants Malades, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33277DOI Listing
March 2010

Skeletal complications in mucopolysaccharidosis VI patients: Case reports.

J Pediatr Rehabil Med 2010 ;3(1):63-9

Unidade de Doenças Metabólicas, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.3233/PRM-2010-0108DOI Listing
October 2012

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.

Am J Med Genet A 2008 Dec;146A(24):3186-94

Department of Clinical Genetics, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1002/ajmg.a.32576DOI Listing
December 2008