Publications by authors named "Ana Berta Sousa"

21Publications

Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56.

J Intern Med 2020 Oct 27. Epub 2020 Oct 27.

Université de Paris, F-75005 Paris, France ; Inserm, U970, Paris Cardiovascular Research Centre, Paris (PARCC), F-75015 Paris, France ; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, F-75015 Paris; Département de Biologie et Pathologie des Tumeurs, Centre Georges François Leclerc, F- 21079, Dijon, France.

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http://dx.doi.org/10.1111/joim.13193DOI Listing
October 2020

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Am J Med Genet A 2020 11 28;182(11):2715-2721. Epub 2020 Aug 28.

Department of Medical Genetics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.61817DOI Listing
November 2020

[Epileptic Encephalopathies of Childhood: The New Paradigm of Genetic Diagnosis].

Acta Med Port 2020 Jun 31;33(6):415-424. Epub 2020 May 31.

Unidade de Neuropediatria, Departamento de Pediatria. Hospital de Santa Maria. Centro Hospitalar e Universitário de Lisboa Norte. Lisboa. Portugal.

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http://dx.doi.org/10.20344/amp.12550DOI Listing
June 2020

NGLY1 deficiency-A rare congenital disorder of deglycosylation.

JIMD Rep 2020 May 10;53(1):2-9. Epub 2020 Apr 10.

Metabolic Diseases Unit, Pediatric Department, Santa Maria's Hospital - Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal.

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http://dx.doi.org/10.1002/jmd2.12108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203651PMC
May 2020

variants in two Portuguese unrelated patients with childhood-onset motor neuron disease.

Amyotroph Lateral Scler Frontotemporal Degener 2020 05 3;21(3-4):291-295. Epub 2020 Apr 3.

Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal.

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http://dx.doi.org/10.1080/21678421.2020.1746343DOI Listing
May 2020

Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.

Taiwan J Obstet Gynecol 2020 Mar;59(2):318-322

Medical Genetics Unit, Department of Pediatrics, Hospital de Santa Maria, North Lisbon Hospital Center, Lisbon, Portugal; Laboratory of Basic Immunology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.tjog.2020.01.024DOI Listing
March 2020

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Taiwan J Obstet Gynecol 2017 Aug;56(4):541-544

Serviço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.tjog.2017.01.012DOI Listing
August 2017

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.

Am J Med Genet A 2016 07 26;170(7):1903-7. Epub 2016 Apr 26.

Serviço de Genética Médica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1002/ajmg.a.37675DOI Listing
July 2016

Description of a child with a 6q14.1-q16.1 interstitial deletion: A very rare entity with airway manifestations.

Int J Pediatr Otorhinolaryngol 2016 May 10;84:147-50. Epub 2016 Mar 10.

ENT Department, Hospital de Santa Maria, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.ijporl.2016.02.009DOI Listing
May 2016

Neonatal McCune-Albright syndrome with systemic involvement: a case report.

J Med Case Rep 2015 Sep 4;9:189. Epub 2015 Sep 4.

Neonatal Intensive-Care Unit, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Centro Académico de Medicina de Lisboa, Lisbon, Portugal.

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http://dx.doi.org/10.1186/s13256-015-0689-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560899PMC
September 2015

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Mol Genet Genomic Med 2015 May 25;3(3):203-14. Epub 2015 Feb 25.

Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar do Porto, EPE Porto, Portugal ; Unit for Multidisciplinary Research in Biomedicine, UMIB, ICBAS-UP Porto, Portugal.

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http://dx.doi.org/10.1002/mgg3.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444162PMC
May 2015

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Medicine (Baltimore) 2015 Feb;94(7):e469

From the CICS-UBI, Health Sciences Research Centre, Faculty of Health Sciences, University of Beira Interior, Covilhã, Portugal (MIA, MCL); Paediatric Nephrology & Renal Transplantation Unit, Department of Paediatrics, Santa Maria Hospital, Lisbon, Portugal (MR, CS); Department of Radiology, Santa Maria Hospital, Lisbon, Portugal (LL); and Genetics Unit, Department of Paediatrics, Santa Maria Hospital, Lisbon, Portugal (AM, ABS).

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https://insights.ovid.com/crossref?an=00005792-201502030-000
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http://dx.doi.org/10.1097/MD.0000000000000469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554182PMC
February 2015

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes.

Eur J Hum Genet 2015 Mar 4;23(3):347-53. Epub 2014 Jun 4.

1] Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal [2] Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/ejhg.2014.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326724PMC
March 2015

An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

J Clin Endocrinol Metab 2010 Sep 9;95(9):E58-63. Epub 2010 Jun 9.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1210/jc.2010-0488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2936059PMC
September 2010

Familial stenosis of the pulmonary artery branches with a JAG1 mutation.

Rev Port Cardiol 2006 Apr;25(4):447-52

Serviço de Genética, Hospital de Santa Maria, Lisboa, Portugal.

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April 2006