Lista de obras - Irfan Saadi - Dominio Público Uruguay

An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.

artículo científico publicado en 2006

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood.

artículo científico publicado en 2009

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

artículo científico publicado en 2008

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

artículo científico publicado en 2008

Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome

artículo científico publicado en 2014

Cystinuria subtype and the risk of nephrolithiasis ⬇️

artículo científico publicado el 1 de julio de 1998

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

artículo científico publicado en 2011

Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome

artículo científico publicado en 2003

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

artículo científico publicado en 2017

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

artículo científico publicado en 2013

Genomic analyses in African populations identify novel risk loci for cleft palate

scientific article published on 01 March 2019

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients

artículo científico publicado en 1996

Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype ⬇️

artículo científico publicado el 1 de julio de 1998

Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development.

artículo científico publicado en 2013

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

artículo científico publicado en 2011

RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery

scientific article published on 11 November 2018

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination

artículo científico publicado en 2016

THPO-MPL pathway and bone marrow failure.

artículo científico publicado en 2014

The cell adhesion gene PVRL3 is associated with congenital ocular defects.

artículo científico publicado en 2011

Lista de obras de Irfan Saadi

An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.

Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood.

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome

Cystinuria subtype and the risk of nephrolithiasis ⬇️

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.

Genomic analyses in African populations identify novel risk loci for cleft palate

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients

Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype ⬇️

Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development.

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery

SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination

THPO-MPL pathway and bone marrow failure.

The cell adhesion gene PVRL3 is associated with congenital ocular defects.