Pesquisa | BVS Doenças Infecciosas e Parasitárias

1.

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.

Yogev, Yuval; Shorer, Zamir; Koifman, Arie; Wormser, Ohad; Drabkin, Max; Halperin, Daniel; Dolgin, Vadim; Proskorovski-Ohayon, Regina; Hadar, Noam; Davidov, Geula; Nudelman, Hila; Zarivach, Raz; Shelef, Ilan; Perez, Yonatan; Birk, Ohad S.

Proc Natl Acad Sci U S A ; 120(7): e2217831120, 2023 02 14.

Artigo em Inglês | MEDLINE | ID: mdl-36745799

2.

[GENOMIC COUNSELING - CHALLENGES AND OPPORTUNITIES].

Koifman, Arie; Liniel, Miora.

Harefuah ; 162(9): 587-592, 2023 Nov.

Artigo em Hebraico | MEDLINE | ID: mdl-37965855

3.

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Michaelson-Cohen, Rachel; Salzer-Sheelo, Liat; Sukenik-Halevy, Rivka; Koifman, Arie; Fellner, Avi; Reches, Adi; Marom, Daphna; Behar, Doron M; Sofrin-Drucker, Efrat; Zaks-Hoffer, Gal; Weiss-Hubshmann, Monika; Oresntein, Naama; Kropach-Gilad, Nesia; Rhurman-Shahar, Noa; Averbuch, Noa Shefer; Magal, Nurit; Bazak, Lily; Josefberg, Sagi; Matar, Reut; Goldberg, Yael; Shohat, Mordechai; Basel-Salmon, Lina; Maya, Idit.

Genet Med ; 22(10): 1703-1709, 2020 10.

Artigo em Inglês | MEDLINE | ID: mdl-32616942

4.

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

Staretz-Chacham, Orna; Noyman, Iris; Wormser, Ohad; Abu Quider, Abed; Hazan, Guy; Morag, Iris; Hadar, Noam; Raymond, Kimiyo; Birk, Ohad S; Ferreira, Carlos R; Koifman, Arie.

Clin Genet ; 97(6): 920-926, 2020 06.

Artigo em Inglês | MEDLINE | ID: mdl-32157688

5.

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.

Sagi-Dain, Lena; Singer, Amihood; Frumkin, Ayala; Shalata, Adel; Koifman, Arie; Segel, Reeval; Benyamini, Lilach; Rienstein, Shlomit; Kahyat, Morad; Sharony, Reuven; Maya, Idit; Ben Shachar, Shay.

J Perinat Med ; 47(1): 30-34, 2018 Dec 19.

Artigo em Inglês | MEDLINE | ID: mdl-29813032

6.

Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis.

Sukenik-Halevy, Rivka; Sukenik, Shay; Koifman, Arie; Alpert, Yoav; Hershkovitz, Reli; Levi, Alex; Biron-Shental, Tal.

Prenat Diagn ; 36(13): 1185-1191, 2016 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-27794172

7.

Antenatal diagnosis of idiopathic arterial calcification: a systematic review with a report of two cases.

Mastrolia, Salvatore Andrea; Weintraub, Adi Yekuda; Baron, Joel; Sciaky-Tamir, Yael; Koifman, Arie; Loverro, Giuseppe; Hershkovitz, Reli.

Arch Gynecol Obstet ; 291(5): 977-86, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25524533

8.

National Rapid Genome Sequencing in Neonatal Intensive Care.

Marom, Daphna; Mory, Adi; Reytan-Miron, Sivan; Amir, Yam; Kurolap, Alina; Cohen, Julia Grinshpun; Morhi, Yocheved; Smolkin, Tatiana; Cohen, Lior; Zangen, Shmuel; Shalata, Adel; Riskin, Arieh; Peleg, Amir; Lavie-Nevo, Karen; Mandel, Dror; Chervinsky, Elana; Fisch, Clari Felszer; Fleisher Sheffer, Vered; Falik-Zaccai, Tzipora C; Rips, Jonathan; Shlomai, Noa Ofek; Friedman, Smadar Eventov; Shporen, Calanit Hershkovich; Ben-Yehoshua, Sagie Josefsberg; Simmonds, Aryeh; Yaacobi, Racheli Goldfarb; Bauer-Rusek, Sofia; Omari, Hussam; Weiss, Karin; Hochwald, Ori; Koifman, Arie; Globus, Omer; Batzir, Nurit Assia; Yaron, Naveh; Segel, Reeval; Morag, Iris; Reish, Orit; Eliyahu, Aviva; Leibovitch, Leah; Schwartz, Marina Eskin; Abramsky, Ramy; Hochberg, Amit; Oron, Anat; Banne, Ehud; Portnov, Igor; Samra, Nadra Nasser; Singer, Amihood; Baris Feldman, Hagit.

JAMA Netw Open ; 7(2): e240146, 2024 Feb 05.

Artigo em Inglês | MEDLINE | ID: mdl-38386321

9.

Pregnancy outcomes among patients with recurrent pregnancy loss and chromosomal aberration (CA) without PGD.

Kabessa, Maor; Harlev, Avi; Friger, Michael; Sergienko, Ruslan; Litwak, Baila; Koifman, Arie; Steiner, Naama; Bashiri, Asher.

J Perinat Med ; 46(7): 764-770, 2018 Sep 25.

Artigo em Inglês | MEDLINE | ID: mdl-28672755

10.

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Koifman, Arie; Feigenbaum, Annette; Bi, Weimin; Shaffer, Lisa G; Rosenfeld, Jill; Blaser, Susan; Chitayat, David.

Am J Med Genet A ; 152A(5): 1268-72, 2010 May.

Artigo em Inglês | MEDLINE | ID: mdl-20425834

11.

Microarray analysis in pregnancies with isolated echogenic bowel.

Singer, Amihood; Maya, Idit; Koifman, Arie; Nasser Samra, Nadra; Baris, Hagit N; Falik-Zaccai, Tzipora; Ben Shachar, Shay; Sagi-Dain, Lena.

Early Hum Dev ; 119: 25-28, 2018 04.

Artigo em Inglês | MEDLINE | ID: mdl-29522884

12.

Trial of labor and vaginal birth after cesarean section in patients with uterine Müllerian anomalies: a population-based study.

Erez, Offer; Dukler, Doron; Novack, Lena; Rozen, Amit; Zolotnik, Leonid; Bashiri, Asher; Koifman, Arie; Mazor, Moshe.

Am J Obstet Gynecol ; 196(6): 537.e1-11, 2007 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-17547885

13.

Reduced third-trimester levels of soluble human leukocyte antigen G protein in severe preeclampsia.

Hackmon, Rinat; Koifman, Arie; Hyodo, Hironobu; Hyobo, Hirohito; Glickman, Hagit; Sheiner, Eyal; Geraghty, Daniel E.

Am J Obstet Gynecol ; 197(3): 255.e1-5, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17826409

14.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Yogev, Yuval; Perez, Yonatan; Noyman, Iris; Madegem, Anwar Abu; Flusser, Hagit; Shorer, Zamir; Cohen, Eugene; Kachko, Leonid; Michaelovsky, Analia; Birk, Ruth; Koifman, Arie; Drabkin, Max; Wormser, Ohad; Halperin, Daniel; Kadir, Rotem; Birk, Ohad S.

Eur J Hum Genet ; 25(8): 966-972, 2017 08.

Artigo em Inglês | MEDLINE | ID: mdl-28488683

15.

Awake fiberoptic intubation and general anesthesia in a parturient with mirror syndrome and a predicted difficult airway.

Zlotnik, Alexander; Gruenbaum, Shaun E; Gruenbaum, Benjamin F; Koifman, Arie; Rusabrov, Efim.

Isr Med Assoc J ; 13(10): 640-2, 2011 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-22097238

16.

The physiologic and therapeutic role of heparin in implantation and placentation.

Quaranta, Michela; Erez, Offer; Mastrolia, Salvatore Andrea; Koifman, Arie; Leron, Elad; Eshkoli, Tamar; Mazor, Moshe; Holcberg, Gershon.

PeerJ ; 3: e691, 2015.

Artigo em Inglês | MEDLINE | ID: mdl-25653897

17.

Meconium-stained amniotic fluid--risk factors and immediate perinatal outcomes among SGA infants.

Pariente, Gali; Peles, C; Perri, Zvi H; Baumfeld, Yael; Mastrolia, Salvatore Andrea; Koifman, Arie; Weintraub, Adi Y; Hershkovitz, Reli.

J Matern Fetal Neonatal Med ; 28(9): 1064-7, 2015 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-25005860

18.

Routine cervical dilatation during elective cesarean delivery - Is it really necessary?

Koifman, Arie; Harlev, Avi; Sheiner, Eyal; Press, Fernanda; Wiznitzer, Arnon.

J Matern Fetal Neonatal Med ; 22(7): 608-11, 2009 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-19350445

19.

The clinical significance of bleeding during the second trimester of pregnancy.

Koifman, Arie; Levy, Amalia; Zaulan, Yaron; Harlev, Avi; Mazor, Moshe; Wiznitzer, Arnon; Sheiner, Eyal.

Arch Gynecol Obstet ; 278(1): 47-51, 2008 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-18066562

20.

Idiopathic spontaneous hemoperitoneum during pregnancy.

Koifman, Arie; Weintraub, Adi Y; Segal, David.

Arch Gynecol Obstet ; 276(3): 269-70, 2007 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-17195941

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