List of works - Irfan Saadi

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

scientific article

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

scientific article published in June 2009

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

scientific article published on 5 September 2008

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

scientific article published on March 2008

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

scientific article

Cystinuria subtype and the risk of nephrolithiasis ⬇️

scientific article published on July 1, 1998

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

scientific article published on 15 July 2011

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

scientific article

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

scientific article published in January 2017

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

scientific article

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

scientific article published on 01 May 1996

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

scientific article published on July 1, 1998

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

scientific article published on 29 May 2013

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

scientific article

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

scientific article

THPO-MPL pathway and bone marrow failure.

scientific article published on 29 November 2014

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

scientific article

List of works by 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.