Diana Ramírez-Montaño

Diana Ramírez-Montaño

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Diana Ramírez-Montaño

Diana Ramírez-Montaño

Publications by authors named "Diana Ramírez-Montaño"

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10Publications

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Microduplication of Xp22.31 and Pathogenic Variant in a Girl with Rett Syndrome: A Case Report.

Iran J Med Sci 2019 Jul;44(4):347-353

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Health Sciences Faculty, L Building, Universidad Icesi, Cali, Colombia.

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http://dx.doi.org/10.30476/IJMS.2019.44945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661518PMC
July 2019

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.

Arch Argent Pediatr 2019 Jun;117(3):e274-e278

Universidad Icesi, Facultad de Ciencias de la Salud, Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER).

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https://www.sap.org.ar/docs/publicaciones/archivosarg/2019/v
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http://dx.doi.org/10.5546/aap.2019.eng.e274DOI Listing
June 2019

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report.

Iran J Med Sci 2019 May;44(3):257-261

Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525729PMC
May 2019

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report.

Colomb Med (Cali) 2019 Mar 30;50(1):40-45. Epub 2019 Mar 30.

Universidad Icesi, Facultad de Ciencias de la Salud. Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER). Cali, Colombia.

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http://dx.doi.org/10.25100/cm.v50i1.3555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536042PMC
March 2019

Achondrogenesis type 1A: clinical, histologic, molecular, and prenatal ultrasound diagnosis.

Appl Clin Genet 2018 25;11:69-73. Epub 2018 May 25.

Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia.

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http://dx.doi.org/10.2147/TACG.S157235DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973320PMC
May 2018

DeSanto-Shinawi Syndrome: First Case in South America.

Mol Syndromol 2018 May 28;9(3):154-158. Epub 2018 Apr 28.

Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Facultad de Ciencias de la Salud, Universidad ICESI, Colombia.

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http://dx.doi.org/10.1159/000488815DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006642PMC
May 2018

Incidentalome in Neurogenetics: Pathogenic Variant of in a Patient With Spinocerebellar Ataxia (SCA).

Front Genet 2018 14;9:86. Epub 2018 Mar 14.

Faculty of Health Sciences, Department of Basic Medical Sciences, Universidad Icesi, Cali, Colombia.

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http://dx.doi.org/10.3389/fgene.2018.00086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861145PMC
March 2018

Novel mutation in gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype.

Appl Clin Genet 2018 23;11:15-21. Epub 2018 Mar 23.

Department of Basic Medical Sciences, Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Valle del Cauca, Colombia.

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http://dx.doi.org/10.2147/TACG.S155022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870921PMC
March 2018

First Case Report of Prader-Willi-Like Syndrome in Colombia.

Front Genet 2018 21;9:98. Epub 2018 Mar 21.

Health Sciences Faculty, Universidad Icesi, Cali, Colombia.

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http://dx.doi.org/10.3389/fgene.2018.00098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871659PMC
March 2018