Lista de obras - Roberto Mendoza-Londono - Dominio Público Uruguay

16q22.1 microdeletion and anticipatory guidance

scientific article published on 29 May 2019

A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

artículo científico publicado en 2009

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes

artículo científico publicado en 2005

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

artículo científico publicado en 2012

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

artículo científico publicado en 2004

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

artículo científico publicado en 2017

Caffey Disease

artículo científico publicado en 2019

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

artículo científico publicado en 2007

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

artículo científico publicado en 2005

Cleidocranial Dysplasia Spectrum Disorder

artículo científico publicado en 2017

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

artículo científico publicado en 2008

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

artículo científico publicado en 2012

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

artículo científico publicado en 2011

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

article

Foreign-born physician-scientists

scientific article published on 01 July 2004

Generalized metabolic bone disease in Neurofibromatosis type I

artículo científico publicado en 2008

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

artículo científico publicado en 2010

Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.

artículo científico publicado en 2010

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

artículo científico publicado en 2017

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

artículo científico publicado en 2007

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

artículo científico publicado en 2005

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

artículo científico publicado en 2013

NSD1 mutations generate a genome-wide DNA methylation signature.

artículo científico publicado en 2015

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

artículo científico publicado en 2012

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

artículo científico publicado en 2018

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

artículo científico publicado en 2010

Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

artículo científico publicado en 2018

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

artículo científico publicado en 2011

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

artículo científico publicado en 2017

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

artículo científico publicado en 2007

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

artículo científico publicado en 2010

The mutational spectrum of brachydactyly type C

article

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

artículo científico publicado en 2016

X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation.

artículo científico publicado en 2005

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

artículo científico publicado en 2004

Lista de obras de Roberto Mendoza-Londono

16q22.1 microdeletion and anticipatory guidance

A recurrentEYA1mutation causing alternative RNA splicing in branchio-oto-renal syndrome: Implications for molecular diagnostics and disease mechanism

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes

Angelman syndrome due to a termination codon mutation of the UBE3A gene.

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.

Caffey Disease

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS.

Cleidocranial Dysplasia Spectrum Disorder

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in theCHST14gene

Foreign-born physician-scientists

Generalized metabolic bone disease in Neurofibromatosis type I

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.

Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

NSD1 mutations generate a genome-wide DNA methylation signature.

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Severe Neonatal Cholestasis as an Early Presentation of McCune-Albright Syndrome

Severe intellectual disability and autistic features associated with microduplication 2q23.1.

Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X.

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

The mutational spectrum of brachydactyly type C

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation.

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development