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Items: 47

1.

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Bhoj EJ, Haye D, Toutain A, Bonneau D, Nielsen IK, Lund IB, Bogaard P, Leenskjold S, Karaer K, Wild KT, Grand KL, Astiazaran MC, Gonzalez-Nieto LA, Carvalho A, Lehalle D, Amudhavalli SM, Repnikova E, Saunders C, Thiffault I, Saadi I, Li D, Hakonarson H, Vial Y, Zackai E, Callier P, Drunat S, Verloes A.

Eur J Med Genet. 2018 Nov 22. pii: S1769-7212(18)30464-6. doi: 10.1016/j.ejmg.2018.11.022. [Epub ahead of print]

PMID:
30472488
2.

Genomic analyses in african populations identify novel risk loci for cleft palate.

Butali A, Mossey PA, Adeyemo WL, Eshete MA, Gowans LJJ, Busch TD, Jain D, Yu W, Huan L, Laurie CA, Laurie CC, Nelson S, Li M, Sanchez-Lara PA, Magee WP 3rd, Magee KS, Auslander A, Brindopke F, Kay DM, Caggana M, Romitti PA, Mills JL, Audu R, Onwuamah C, Oseni GO, Owais A, James O, Olaitan PB, Aregbesola BS, Braimah RO, Oginni FO, Oladele AO, Bello SA, Rhodes J, Shiang R, Donkor P, Obiri-Yeboah S, Arthur FKN, Twumasi P, Agbenorku P, Plange-Rhule G, Oti AA, Ogunlewe OM, Oladega AA, Adekunle AA, Erinoso AO, Adamson OO, Elufowoju AA, Ayelomi OI, Hailu T, Hailu A, Demissie Y, Derebew M, Eliason S, Romero-Bustillous M, Lo C, Park J, Desai S, Mohammed M, Abate F, Abdur-Rahman LO, Anand D, Saadi I, Oladugba AV, Lachke SA, Amendt BA, Rotimi CN, Marazita ML, Cornell RA, Murray JC, Adeyemo AA.

Hum Mol Genet. 2018 Nov 19. doi: 10.1093/hmg/ddy402. [Epub ahead of print]

PMID:
30452639
3.

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

Anand D, Kakrana A, Siddam AD, Huang H, Saadi I, Lachke SA.

Hum Genet. 2018 Dec;137(11-12):941-954. doi: 10.1007/s00439-018-1958-0. Epub 2018 Nov 11.

PMID:
30417254
4.

A flexible control system designed for lab-scale simulations and optimization of composting processes.

Oazana S, Naor M, Grinshpun J, Halachmi I, Raviv M, Saadi I, Avidov R, Varma VS, Rosenfeld L, Gross A, Laor Y.

Waste Manag. 2018 Feb;72:150-160. doi: 10.1016/j.wasman.2017.11.029. Epub 2017 Nov 22.

PMID:
29174066
5.

Composting municipal biosolids in polyethylene sleeves with forced aeration: Process control, air emissions, sanitary and agronomic aspects.

Avidov R, Saadi I, Krassnovsky A, Hanan A, Medina S, Raviv M, Chen Y, Laor Y.

Waste Manag. 2017 Sep;67:32-42. doi: 10.1016/j.wasman.2017.05.035. Epub 2017 Jun 5.

PMID:
28595805
6.

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

Liu H, Busch T, Eliason S, Anand D, Bullard S, Gowans LJJ, Nidey N, Petrin A, Augustine-Akpan EA, Saadi I, Dunnwald M, Lachke SA, Zhu Y, Adeyemo A, Amendt B, Roscioli T, Cornell R, Murray J, Butali A.

Birth Defects Res. 2017 Jan 20;109(1):27-37. doi: 10.1002/bdra.23596.

7.

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

Wilson NR, Olm-Shipman AJ, Acevedo DS, Palaniyandi K, Hall EG, Kosa E, Stumpff KM, Smith GJ, Pitstick L, Liao EC, Bjork BC, Czirok A, Saadi I.

Sci Rep. 2016 Jan 20;6:17735. doi: 10.1038/srep17735.

8.

THPO-MPL pathway and bone marrow failure.

Dasouki M, Saadi I, Ahmed SO.

Hematol Oncol Stem Cell Ther. 2015 Mar;8(1):6-9. doi: 10.1016/j.hemonc.2014.11.005. Epub 2014 Nov 29.

9.

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.

Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH.

J Med Genet. 2015 Feb;52(2):104-10. doi: 10.1136/jmedgenet-2014-102677. Epub 2014 Nov 20.

10.

Primary Non-Hodgkin's Lymphoma of the Uterine Cervix: Case Report of Long-Term Survival Patient.

Mouhajir N, Diakité A, Toulba A, Hemmich M, Saadi I, Elkacemi H, Kebdani T, Benjaafar N.

J Obstet Gynaecol India. 2014 Dec;64(Suppl 1):145-7. doi: 10.1007/s13224-013-0483-2. Epub 2013 Dec 10. No abstract available.

11.

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

Dasouki M, Roberts J, Santiago A, Saadi I, Hovanes K.

Eur J Med Genet. 2014 Feb;57(2-3):76-80. doi: 10.1016/j.ejmg.2013.12.007. Epub 2014 Jan 22.

PMID:
24462885
12.

Fate of soil-applied olive mill wastewater and potential phytotoxicity assessed by two bioassay methods.

Saadi I, Raviv M, Berkovich S, Hanan A, Aviani I, Laor Y.

J Environ Qual. 2013 Nov;42(6):1791-801. doi: 10.2134/jeq2012.0331.

PMID:
25602419
13.

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

Dasouki MJ, Rafi SK, Olm-Shipman AJ, Wilson NR, Abhyankar S, Ganter B, Furness LM, Fang J, Calado RT, Saadi I.

Blood. 2013 Nov 14;122(20):3440-9. doi: 10.1182/blood-2012-12-473538. Epub 2013 Oct 1.

14.

Intravenous iron monotherapy for the treatment of non-iron-deficiency anemia in cancer patients undergoing chemotherapy: a pilot study.

Abdel-Razeq H, Abbasi S, Saadi I, Jaber R, Abdelelah H.

Drug Des Devel Ther. 2013 Aug 30;7:939-44. doi: 10.2147/DDDT.S45674. eCollection 2013.

15.

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

Saadi I, Das P, Zhao M, Raj L, Ruspita I, Xia Y, Papaioannou VE, Bei M.

Development. 2013 Jul;140(13):2697-702. doi: 10.1242/dev.088393. Epub 2013 May 29.

16.

Protein inhibitors of activated STAT (Pias1 and Piasy) differentially regulate pituitary homeobox 2 (PITX2) transcriptional activity.

Wang J, Sun Z, Zhang Z, Saadi I, Wang J, Li X, Gao S, Engle JJ, Kuburas A, Fu X, Yu W, Klein WH, Russo AF, Amendt BA.

J Biol Chem. 2013 May 3;288(18):12580-95. doi: 10.1074/jbc.M112.374561. Epub 2013 Mar 20.

17.

A screening tool for selection of field odor assessors.

Laor Y, Orenstein P, Ravid U, Baybikov R, Hanan A, Saadi I, Abbou Y.

J Air Waste Manag Assoc. 2011 Dec;61(12):1353-60.

PMID:
22263423
18.

Effects of harvest date, irrigation level, cultivar type and fruit water content on olive mill wastewater generated by a laboratory scale 'Abencor' milling system.

Aviani I, Raviv M, Hadar Y, Saadi I, Dag A, Ben-Gal A, Yermiyahu U, Zipori I, Laor Y.

Bioresour Technol. 2012 Mar;107:87-96. doi: 10.1016/j.biortech.2011.12.041. Epub 2011 Dec 24.

PMID:
22226593
19.

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

Lachke SA, Higgins AW, Inagaki M, Saadi I, Xi Q, Long M, Quade BJ, Talkowski ME, Gusella JF, Fujimoto A, Robinson ML, Yang Y, Duong QT, Shapira I, Motro B, Miyoshi J, Takai Y, Morton CC, Maas RL.

Hum Genet. 2012 Feb;131(2):235-50. doi: 10.1007/s00439-011-1064-z. Epub 2011 Jul 17.

20.

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL.

Am J Hum Genet. 2011 Jul 15;89(1):44-55. doi: 10.1016/j.ajhg.2011.05.023. Epub 2011 Jun 23.

21.

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.

Lachke SA, Alkuraya FS, Kneeland SC, Ohn T, Aboukhalil A, Howell GR, Saadi I, Cavallesco R, Yue Y, Tsai AC, Nair KS, Cosma MI, Smith RS, Hodges E, Alfadhli SM, Al-Hajeri A, Shamseldin HE, Behbehani A, Hannon GJ, Bulyk ML, Drack AV, Anderson PJ, John SW, Maas RL.

Science. 2011 Mar 25;331(6024):1571-6. doi: 10.1126/science.1195970.

22.

Original and residual phytotoxicity of olive mill wastewater revealed by fractionations before and after incubation with Pleurotus ostreatus.

Aviani I, Raviv M, Hadar Y, Saadi I, Laor Y.

J Agric Food Chem. 2009 Dec 9;57(23):11254-60. doi: 10.1021/jf901984k.

PMID:
19904988
23.

Methodological aspects of microcalorimetry used to assess the dynamics of microbial activity during composting.

Medina S, Raviv M, Saadi I, Laor Y.

Bioresour Technol. 2009 Oct;100(20):4814-20. doi: 10.1016/j.biortech.2009.05.015. Epub 2009 Jun 13.

PMID:
19525109
24.

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

Wang XP, O'Connell DJ, Lund JJ, Saadi I, Kuraguchi M, Turbe-Doan A, Cavallesco R, Kim H, Park PJ, Harada H, Kucherlapati R, Maas RL.

Development. 2009 Jun;136(11):1939-49. doi: 10.1242/dev.033803.

25.

Effect of flagella expression on adhesion of Achromobacter piechaudii to chalk surfaces.

Nejidat A, Saadi I, Ronen Z.

J Appl Microbiol. 2008 Dec;105(6):2009-14. doi: 10.1111/j.1365-2672.2008.03930.x.

26.

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

Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC.

Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Erratum in: Am J Hum Genet. 2008 Sep;83(3):425-7.

27.

SUMO1 haploinsufficiency leads to cleft lip and palate.

Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL.

Science. 2006 Sep 22;313(5794):1751.

28.

Fluorescence-based evidence for adsorptive binding of pyrene to effluent dissolved organic matter.

Borisover M, Laor Y, Bukhanovsky N, Saadi I.

Chemosphere. 2006 Dec;65(11):1925-34. Epub 2006 Aug 28.

PMID:
16934851
29.

Land spreading of olive mill wastewater: effects on soil microbial activity and potential phytotoxicity.

Saadi I, Laor Y, Raviv M, Medina S.

Chemosphere. 2007 Jan;66(1):75-83. Epub 2006 Jun 30.

PMID:
16814841
30.

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

Saadi I, Toro R, Kuburas A, Semina E, Murray JC, Russo AF.

Birth Defects Res A Clin Mol Teratol. 2006 Mar;76(3):175-81.

31.

Monitoring of effluent DOM biodegradation using fluorescence, UV and DOC measurements.

Saadi I, Borisover M, Armon R, Laor Y.

Chemosphere. 2006 Apr;63(3):530-9. Epub 2005 Oct 10.

PMID:
16219335
32.

Cell-specific activation of the atrial natriuretic factor promoter by PITX2 and MEF2A.

Toro R, Saadi I, Kuburas A, Nemer M, Russo AF.

J Biol Chem. 2004 Dec 10;279(50):52087-94. Epub 2004 Oct 1.

33.

[Management of phyllodes tumors of the breast at the National institute of oncology of Rabat, Morocco].

Kanouni L, Jalil A, Saâdi I, Sifat H, Hadadi K, Errihani H, Mansouri A, Benjaafar N, Ahyoud F, Souadka A, Kettani F, El Gueddari BK.

Gynecol Obstet Fertil. 2004 Apr;32(4):293-301. Review. French.

PMID:
15123098
34.
35.

[Angiocentric lymphoma of the face: report of the 2 cases].

Amaoui B, Saadi I, El Mourabit A, El Marjany M, Sifat H, Errihani H, Mansouri A, Benjaafar N, El Gueddari BK.

Cancer Radiother. 2003 Oct;7(5):314-6. French.

PMID:
14522352
36.

[Adenoid cystic carcinoma of the nasopharynx: a case report].

Saâdi I, El Marfany M, Hadadi K, Amaoui B, Kebdani T, Errihani H, Mansouri A, Benjaafar N, El-Gueddari BK.

Cancer Radiother. 2003 Jun;7(3):190-4. French.

PMID:
12834776
37.

[Muscle metastasis of squamous cell carcinoma of the uterine cervix].

Saâdi I, Hadadi K, Amaoui B, Errihani H, Mansouri A, Benjaafar N, El Gueddari BK.

Cancer Radiother. 2003 Jun;7(3):187-9. French.

PMID:
12834775
38.

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

Saadi I, Kuburas A, Engle JJ, Russo AF.

Mol Cell Biol. 2003 Mar;23(6):1968-82.

39.

[Primary squamous cell carcinoma of the breast. Report of three cases].

Tayeb K, Saâdi I, Kharmash M, Hadadi K, El Omari-Alaoui H, El Ghazi E, Mansouri A, Errihani H, Benjaafar N, El Gueddari BK.

Cancer Radiother. 2002 Dec;6(6):366-8. French.

PMID:
12504775
40.

[Sarcoma botryoïde of the uterine cervix: report of a case].

Saâdi I, Errihani H, Haddadi K, Amaoui B, Benjaafar B, El Gueddari BK.

Cancer Radiother. 2002 Dec;6(6):363-5. French.

PMID:
12504774
41.

[Intracranial Hodgkin disease: case report].

Hadadi K, Sifat H, Saâdi I, Kebdani T, Kanouni L, el Marjany M, Mansouri H, el Ghazi E, Mansouri A, Errihani H, Benjaafar N, el Gueddari BK.

Cancer Radiother. 2002 Sep;6(5):285-8. French.

PMID:
12412365
42.

Identification of a dominant negative homeodomain mutation in Rieger syndrome.

Saadi I, Semina EV, Amendt BA, Harris DJ, Murphy KP, Murray JC, Russo AF.

J Biol Chem. 2001 Jun 22;276(25):23034-41. Epub 2001 Apr 11.

43.

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.

Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R.

Hum Mutat. 2000;15(3):280-7.

PMID:
10679944
44.

Cystinuria subtype and the risk of nephrolithiasis.

Goodyer P, Saadi I, Ong P, Elkas G, Rozen R.

Kidney Int. 1998 Jul;54(1):56-61.

45.

Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.

Saadi I, Chen XZ, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R.

Kidney Int. 1998 Jul;54(1):48-55.

46.

Sol-gel applications in environmental biotechnology.

Armon R, Dosoretz C, Starosvetsky J, Orshansky F, Saadi I.

J Biotechnol. 1996 Nov 15;51(3):279-85.

PMID:
8988652
47.

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

Horsford J, Saadi I, Raelson J, Goodyer PR, Rozen R.

Kidney Int. 1996 May;49(5):1401-6.

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