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Irfan Saadi
Irfan Saadi
University of Kansas Medical Center
Correu electrònic verificat a kumc.edu - Pàgina d'inici
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SUMO1 haploinsufficiency leads to cleft lip and palate
FS Alkuraya, I Saadi, JJ Lund, A Turbe-Doan, CC Morton, RL Maas
Science 313 (5794), 1751-1751, 2006
2642006
Apc inhibition of Wnt signaling regulates supernumerary tooth formation during embryogenesis and throughout adulthood
XP Wang, DJ O'Connell, JJ Lund, I Saadi, M Kuraguchi, A Turbe-Doan, ...
Oxford University Press for The Company of Biologists Limited 136 (11), 1939 …, 2009
2422009
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma
SA Lachke, FS Alkuraya, SC Kneeland, T Ohn, A Aboukhalil, GR Howell, ...
Science 331 (6024), 1571-1576, 2011
2112011
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria
S Sibani, B Christensen, E O'Ferrall, I Saadi, F Hiou‐Tim, DS Rosenblatt, ...
Human mutation 15 (3), 280-287, 2000
1682000
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project
AW Higgins, FS Alkuraya, AF Bosco, KK Brown, GAP Bruns, DJ Donovan, ...
The American Journal of Human Genetics 82 (3), 712-722, 2008
1432008
Cystinuria subtype and the risk of nephrolithiasis
P Goodyer, I Saadi, P Ong, G Elkas, R Rozen
Kidney international 54 (1), 56-61, 1998
1201998
Identification of a dominant negative homeodomain mutation in Rieger syndrome
I Saadi, EV Semina, BA Amendt, DJ Harris, KP Murphy, JC Murray, ...
Journal of Biological Chemistry 276 (25), 23034-23041, 2001
1042001
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting
I Saadi, FS Alkuraya, SS Gisselbrecht, W Goessling, R Cavallesco, ...
The American Journal of Human Genetics 89 (1), 44-55, 2011
902011
Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in the type I (silent) phenotype
I Saadi, XZ Chen, M Hediger, P Ong, P Pereira, P Goodyer, R Rozen
Kidney international 54 (1), 48-55, 1998
871998
Genomic analyses in African populations identify novel risk loci for cleft palate
A Butali, PA Mossey, WL Adeyemo, MA Eshete, LJJ Gowans, TD Busch, ...
Human molecular genetics 28 (6), 1038-1051, 2019
802019
Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia
MJ Dasouki, SK Rafi, AJ Olm-Shipman, NR Wilson, S Abhyankar, ...
Blood, The Journal of the American Society of Hematology 122 (20), 3440-3449, 2013
792013
The cell adhesion gene PVRL3 is associated with congenital ocular defects
SA Lachke, AW Higgins, M Inagaki, I Saadi, Q Xi, M Long, BJ Quade, ...
Human genetics 131, 235-250, 2012
662012
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate
H Liu, T Busch, S Eliason, D Anand, S Bullard, LJJ Gowans, N Nidey, ...
Birth defects research 109 (1), 27-37, 2017
592017
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
P Kruszka, D Li, MH Harr, NR Wilson, D Swarr, EM McCormick, ...
Journal of medical genetics 52 (2), 104-110, 2015
532015
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals
JC Carlson, D Anand, A Butali, CJ Buxo, K Christensen, F Deleyiannis, ...
Genetic epidemiology 43 (6), 704-716, 2019
522019
Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients
J Horsford, I Saadi, J Raelson, PR Goodyer, R Rozen
Kidney international 49 (5), 1401-1406, 1996
511996
Dominant negative dimerization of a mutant homeodomain protein in Axenfeld-Rieger syndrome
I Saadi, A Kuburas, JJ Engle, AF Russo
Molecular and cellular biology 23 (6), 1968-1982, 2003
482003
SPECC1L deficiency results in increased adherens junction stability and reduced cranial neural crest cell delamination
NR Wilson, AJ Olm-Shipman, DS Acevedo, K Palaniyandi, EG Hall, ...
Scientific reports 6 (1), 17735, 2016
442016
Msx1 and Tbx2 antagonistically regulate Bmp4 expression during the bud-to-cap stage transition in tooth development
I Saadi, P Das, M Zhao, L Raj, I Ruspita, Y Xia, VE Papaioannou, M Bei
Development 140 (13), 2697-2702, 2013
442013
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery
D Anand, A Kakrana, AD Siddam, H Huang, I Saadi, SA Lachke
Human genetics 137, 941-954, 2018
362018
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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