30388401,31680667,31857680,32055942,32051555,24533231,29908639,16570850,17204043,28899975,26981562,28730668,21948117,27621838,26956250,24215781,25082979,23970884,28428943,27628567,25097207,25982095,23681114,22212250,21324877,25211151,21421271,2323269 - Search Results

Year	Number of Results
1991	2
1992	1
1993	5
1994	3
1997	1
1998	3
1999	3
2000	1
2001	3
2003	1
2005	2
2006	4
2007	2
2008	2
2009	3
2011	8
2012	4
2013	5
2014	5
2015	2
2016	4
2017	3
2018	2
2019	2
2020	3
2021	3
2022	1
2024	0

1

A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I.

Rezaei M, Buckett W, Bareke E, Surti U, Majewski J, Slim R. Rezaei M, et al. J Med Genet. 2022 Jun;59(6):568-570. doi: 10.1136/jmedgenet-2021-107875. Epub 2021 May 21. J Med Genet. 2022. PMID: 34021051 No abstract available.

2

The genetics of recurrent hydatidiform moles in Mexico: further evidence of a strong founder effect for one mutation in NLRP7 and its widespread.

Aguinaga M, Rezaei M, Monroy I, Mechtouf N, Pérez J, Moreno E, Valdespino Y, Galaz C, Razo G, Medina D, Piña R, Slim R. Aguinaga M, et al. J Assist Reprod Genet. 2021 Jul;38(7):1879-1886. doi: 10.1007/s10815-021-02132-1. Epub 2021 Mar 22. J Assist Reprod Genet. 2021. PMID: 33751332 Free PMC article.

3

Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure.

Rezaei M, Suresh B, Bereke E, Hadipour Z, Aguinaga M, Qian J, Bagga R, Fardaei M, Hemida R, Jagadeesh S, Majewski J, Slim R. Rezaei M, et al. Clin Genet. 2021 Jun;99(6):823-828. doi: 10.1111/cge.13941. Epub 2021 Feb 23. Clin Genet. 2021. PMID: 33583041

4

A novel NLRP7 protein-truncating mutation associated with discordant and divergent p57 immunostaining in diploid biparental and triploid digynic moles.

Allias F, Mechtouf N, Gaillot-Durand L, Hoffner L, Hajri T, Devouassoux-Shisheboran M, Massardier J, Golfier F, Bolze PA, Surti U, Slim R. Allias F, et al. Virchows Arch. 2020 Aug;477(2):309-315. doi: 10.1007/s00428-020-02769-w. Epub 2020 Feb 13. Virchows Arch. 2020. PMID: 32055942

5

Correction: Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.

Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi K, Breguet M, Arseneau J, Ronnett BM, Hoffner L, Lazure F, Arnaud M, Peers F, Tan L, Rafea BA, Aguinaga M, Horowitz NS, Ao A, Tan SL, Brown R, Buckett W, Surti U, Hovanes K, Sahoo T, Sauthier P, Slim R. Khawajkie Y, et al. Mod Pathol. 2020 Jun;33(6):1237. doi: 10.1038/s41379-020-0487-2. Mod Pathol. 2020. PMID: 32051555 Free article.

6

Comprehensive analysis of 204 sporadic hydatidiform moles: revisiting risk factors and their correlations with the molar genotypes.

Khawajkie Y, Mechtouf N, Nguyen NMP, Rahimi K, Breguet M, Arseneau J, Ronnett BM, Hoffner L, Lazure F, Arnaud M, Peers F, Tan L, Rafea BA, Aguinaga M, Horowitz NS, Ao A, Tan SL, Brown R, Buckett W, Surti U, Hovanes K, Sahoo T, Sauthier P, Slim R. Khawajkie Y, et al. Mod Pathol. 2020 May;33(5):880-892. doi: 10.1038/s41379-019-0432-4. Epub 2019 Dec 19. Mod Pathol. 2020. PMID: 31857680 Free article.

7

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues.

Khawajkie Y, Mechtouf N, Nguyen P, Slim R. Khawajkie Y, et al. J Vis Exp. 2019 Oct 20;(152). doi: 10.3791/60366. J Vis Exp. 2019. PMID: 31680667

8

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.

Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R. Nguyen NMP, et al. Am J Hum Genet. 2018 Nov 1;103(5):740-751. doi: 10.1016/j.ajhg.2018.10.007. Am J Hum Genet. 2018. PMID: 30388401 Free PMC article.

9

A bioinformatics transcriptome meta-analysis highlights the importance of trophoblast differentiation in the pathology of hydatidiform moles.

Desterke C, Slim R, Candelier JJ. Desterke C, et al. Placenta. 2018 May;65:29-36. doi: 10.1016/j.placenta.2018.04.002. Epub 2018 Apr 7. Placenta. 2018. PMID: 29908639

10

Antagonism of EG-VEGF Receptors as Targeted Therapy for Choriocarcinoma Progression In Vitro and In Vivo.

Traboulsi W, Sergent F, Boufettal H, Brouillet S, Slim R, Hoffmann P, Benlahfid M, Zhou QY, Balboni G, Onnis V, Bolze PA, Salomon A, Sauthier P, Mallet F, Aboussaouira T, Feige JJ, Benharouga M, Alfaidy N. Traboulsi W, et al. Clin Cancer Res. 2017 Nov 15;23(22):7130-7140. doi: 10.1158/1078-0432.CCR-17-0811. Epub 2017 Sep 12. Clin Cancer Res. 2017. PMID: 28899975

11

Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect?

Khawajkie Y, Buckett W, Nguyen NMP, Mechtouf N, Ao A, Arseneau J, Slim R. Khawajkie Y, et al. Genes Chromosomes Cancer. 2017 Dec;56(12):832-840. doi: 10.1002/gcc.22484. Epub 2017 Sep 1. Genes Chromosomes Cancer. 2017. PMID: 28730668

12

Pathogenic variant in NLRP7 (19q13.42) associated with recurrent gestational trophoblastic disease: Data from early embryo development observed during in vitro fertilization.

Sills ES, Obregon-Tito AJ, Gao H, McWilliams TK, Gordon AT, Adams CA, Slim R. Sills ES, et al. Clin Exp Reprod Med. 2017 Mar;44(1):40-46. doi: 10.5653/cerm.2017.44.1.40. Epub 2017 Mar 31. Clin Exp Reprod Med. 2017. PMID: 28428943 Free PMC article.

13

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Touitou I, Fardaei M, Slim R. Reddy R, et al. Eur J Hum Genet. 2016 Oct;24(10):1516. doi: 10.1038/ejhg.2016.96. Eur J Hum Genet. 2016. PMID: 27628567 Free PMC article. No abstract available.

14

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.

Rezaei M, Nguyen NM, Foroughinia L, Dash P, Ahmadpour F, Verma IC, Slim R, Fardaei M. Rezaei M, et al. Hum Genome Var. 2016 Sep 1;3:16027. doi: 10.1038/hgv.2016.27. eCollection 2016. Hum Genome Var. 2016. PMID: 27621838 Free PMC article.

15

Circulating Tumor DNA: A Potential Novel Diagnostic Approach in Gestational Trophoblastic Neoplasia.

Bolze PA, Slim R. Bolze PA, et al. EBioMedicine. 2016 Jan 12;4:11-2. doi: 10.1016/j.ebiom.2016.01.013. eCollection 2016 Feb. EBioMedicine. 2016. PMID: 26981562 Free PMC article. No abstract available.

16

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

Reddy R, Nguyen NM, Sarrabay G, Rezaei M, Rivas MC, Kavasoglu A, Berkil H, Elshafey A, Abdalla E, Nunez KP, Dreyfus H, Philippe M, Hadipour Z, Durmaz A, Eaton EE, Schubert B, Ulker V, Hadipour F, Ahmadpour F, Touitou I, Fardaei M, Slim R. Reddy R, et al. Eur J Hum Genet. 2016 Oct;24(10):1445-52. doi: 10.1038/ejhg.2016.9. Epub 2016 Mar 9. Eur J Hum Genet. 2016. PMID: 26956250 Free PMC article.

17

Live births in women with recurrent hydatidiform mole and two NLRP7 mutations.

Akoury E, Gupta N, Bagga R, Brown S, Déry C, Kabra M, Srinivasan R, Slim R. Akoury E, et al. Reprod Biomed Online. 2015 Jul;31(1):120-4. doi: 10.1016/j.rbmo.2015.03.011. Epub 2015 Apr 16. Reprod Biomed Online. 2015. PMID: 25982095

18

NLRP7 and KHDC3L, the two maternal-effect proteins responsible for recurrent hydatidiform moles, co-localize to the oocyte cytoskeleton.

Akoury E, Zhang L, Ao A, Slim R. Akoury E, et al. Hum Reprod. 2015 Jan;30(1):159-69. doi: 10.1093/humrep/deu291. Epub 2014 Oct 29. Hum Reprod. 2015. PMID: 25358348

19

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R. Reddy R, et al. PLoS One. 2014 Sep 11;9(9):e107326. doi: 10.1371/journal.pone.0107326. eCollection 2014. PLoS One. 2014. PMID: 25211151 Free PMC article.

20

Comprehensive genotype-phenotype correlations between NLRP7 mutations and the balance between embryonic tissue differentiation and trophoblastic proliferation.

Nguyen NM, Zhang L, Reddy R, Déry C, Arseneau J, Cheung A, Surti U, Hoffner L, Seoud M, Zaatari G, Bagga R, Srinivasan R, Coullin P, Ao A, Slim R. Nguyen NM, et al. J Med Genet. 2014 Sep;51(9):623-34. doi: 10.1136/jmedgenet-2014-102546. Epub 2014 Aug 5. J Med Genet. 2014. PMID: 25097207

21

NLRP7 inter-domain interactions: the NACHT-associated domain is the physical mediator for oligomeric assembly.

Singer H, Biswas A, Zimmer N, Messaed C, Oldenburg J, Slim R, El-Maarri O. Singer H, et al. Mol Hum Reprod. 2014 Oct;20(10):990-1001. doi: 10.1093/molehr/gau060. Epub 2014 Jul 31. Mol Hum Reprod. 2014. PMID: 25082979 Free PMC article.

22

Genetics and Epigenetics of Recurrent Hydatidiform Moles: Basic Science and Genetic Counselling.

Nguyen NM, Slim R. Nguyen NM, et al. Curr Obstet Gynecol Rep. 2014 Jan 21;3(1):55-64. doi: 10.1007/s13669-013-0076-1. eCollection 2014. Curr Obstet Gynecol Rep. 2014. PMID: 24533231 Free PMC article. Review.

23

Absence of KHDC3L mutations in Chinese patients with recurrent and sporadic hydatidiform moles.

Zhao W, Muhetaer A, Luo T, Zhou W, Qi C, Chen X, Zhang X, Zhang Z, Dery C, Slim R, Qian J. Zhao W, et al. Cancer Genet. 2013 Sep-Oct;206(9-10):327-9. doi: 10.1016/j.cancergen.2013.09.003. Epub 2013 Oct 2. Cancer Genet. 2013. PMID: 24215781

24

NLRP7 and the Genetics of Hydatidiform Moles: Recent Advances and New Challenges.

Slim R, Wallace EP. Slim R, et al. Front Immunol. 2013 Aug 20;4:242. doi: 10.3389/fimmu.2013.00242. eCollection 2013. Front Immunol. 2013. PMID: 23970884 Free PMC article.

25

Recurrent pregnancy loss in a woman with NLRP7 mutation: not all molar pregnancies can be easily classified as either "partial" or "complete" hydatidiform moles.

Brown L, Mount S, Reddy R, Slim R, Wong C, Jobanputra V, Clifford P, Merrill L, Brown S. Brown L, et al. Int J Gynecol Pathol. 2013 Jul;32(4):399-405. doi: 10.1097/PGP.0b013e31826cbf6a. Int J Gynecol Pathol. 2013. PMID: 23722513

26

Differential expression of E-cadherin, β-catenin, and Lewis x between invasive hydatidiform moles and post-molar choriocarcinomas.

Candelier JJ, Frappart L, Diatta AL, Yadaden T, Cissé ML, Afoutou JM, Picard JY, Mennesson B, Slim R, Si-Tayeb K, Coullin P. Candelier JJ, et al. Virchows Arch. 2013 Jun;462(6):653-63. doi: 10.1007/s00428-013-1427-z. Epub 2013 May 17. Virchows Arch. 2013. PMID: 23681114

27

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.

Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R. Reddy R, et al. Eur J Hum Genet. 2013 Sep;21(9):957-64. doi: 10.1038/ejhg.2012.274. Epub 2012 Dec 12. Eur J Hum Genet. 2013. PMID: 23232697 Free PMC article.

28

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, Decker C, Dafinger C, Ebermann I, Bergmann C, Bolz HJ. Eisenberger T, et al. Orphanet J Rare Dis. 2012 Sep 2;7:59. doi: 10.1186/1750-1172-7-59. Orphanet J Rare Dis. 2012. PMID: 22938382 Free PMC article.

29

TMED2/p24β1 is expressed in all gestational stages of human placentas and in choriocarcinoma cell lines.

Zakariyah A, Hou W, Slim R, Jerome-Majewska L. Zakariyah A, et al. Placenta. 2012 Mar;33(3):214-9. doi: 10.1016/j.placenta.2011.12.009. Epub 2011 Dec 31. Placenta. 2012. PMID: 22212250

30

[Family pedigree analysis in family member with history of hydatidiform mole and the NLRP7 gene expression].

Li Y, Cheng Q, Qian JH, Zhou W, Xie X, Slim R. Li Y, et al. Zhonghua Fu Chan Ke Za Zhi. 2011 Aug;46(8):600-4. Zhonghua Fu Chan Ke Za Zhi. 2011. PMID: 22169519 Chinese.

31

NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.

Messaed C, Akoury E, Djuric U, Zeng J, Saleh M, Gilbert L, Seoud M, Qureshi S, Slim R. Messaed C, et al. J Biol Chem. 2011 Dec 16;286(50):43313-23. doi: 10.1074/jbc.M111.306191. Epub 2011 Oct 24. J Biol Chem. 2011. PMID: 22025618 Free PMC article.

32

NLRP7 and the genetics of post-molar choriocarcinomas in Senegal.

Slim R, Coullin P, Diatta AL, Chebaro W, Courtin D, Abdelhak S, Garcia A. Slim R, et al. Mol Hum Reprod. 2012 Jan;18(1):52-6. doi: 10.1093/molehr/gar060. Epub 2011 Sep 26. Mol Hum Reprod. 2012. PMID: 21948117

33

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

Akoury E, El Zir E, Mansour A, Mégarbané A, Majewski J, Slim R. Akoury E, et al. Ophthalmic Genet. 2011 Nov;32(4):245-9. doi: 10.3109/13816810.2011.587083. Epub 2011 Jun 15. Ophthalmic Genet. 2011. PMID: 21675857

34

NLRP7 in the spectrum of reproductive wastage: rare non-synonymous variants confer genetic susceptibility to recurrent reproductive wastage.

Messaed C, Chebaro W, Di Roberto RB, Rittore C, Cheung A, Arseneau J, Schneider A, Chen MF, Bernishke K, Surti U, Hoffner L, Sauthier P, Buckett W, Qian J, Lau NM, Bagga R, Engert JC, Coullin P, Touitou I, Slim R; H M Collaborative Group. Messaed C, et al. J Med Genet. 2011 Aug;48(8):540-8. doi: 10.1136/jmg.2011.089144. Epub 2011 Jun 9. J Med Genet. 2011. PMID: 21659348

35

Recurrent triploid and dispermic conceptions in patients with NLRP7 mutations.

Slim R, Ao A, Surti U, Zhang L, Hoffner L, Arseneau J, Cheung A, Chebaro W, Wischmeijer A. Slim R, et al. Placenta. 2011 May;32(5):409-12. doi: 10.1016/j.placenta.2011.02.001. Epub 2011 Mar 21. Placenta. 2011. PMID: 21421271 Free PMC article.

36

A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes.

Choufani S, Shapiro JS, Susiarjo M, Butcher DT, Grafodatskaya D, Lou Y, Ferreira JC, Pinto D, Scherer SW, Shaffer LG, Coullin P, Caniggia I, Beyene J, Slim R, Bartolomei MS, Weksberg R. Choufani S, et al. Genome Res. 2011 Mar;21(3):465-76. doi: 10.1101/gr.111922.110. Epub 2011 Feb 7. Genome Res. 2011. PMID: 21324877 Free PMC article.

37

A strong founder effect for two NLRP7 mutations in the Indian population: an intriguing observation.

Slim R, Bagga R, Chebaro W, Srinivasan R, Agarwal N. Slim R, et al. Clin Genet. 2009 Sep;76(3):292-5. doi: 10.1111/j.1399-0004.2009.01189.x. Epub 2009 Jul 24. Clin Genet. 2009. PMID: 19650864 Free PMC article. No abstract available.

38

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ. Mégarbané A, et al. Eur J Hum Genet. 2009 Aug;17(8):1076-9. doi: 10.1038/ejhg.2008.273. Epub 2009 Feb 4. Eur J Hum Genet. 2009. PMID: 19190672 Free PMC article.

39

NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.

Deveault C, Qian JH, Chebaro W, Ao A, Gilbert L, Mehio A, Khan R, Tan SL, Wischmeijer A, Coullin P, Xie X, Slim R. Deveault C, et al. Hum Mol Genet. 2009 Mar 1;18(5):888-97. doi: 10.1093/hmg/ddn418. Epub 2008 Dec 9. Hum Mol Genet. 2009. PMID: 19066229

40

The infevers autoinflammatory mutation online registry: update with new genes and functions.

Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, Lesage S, Waterham H, Wise C, Sarrauste de Menthiere C, Touitou I. Milhavet F, et al. Hum Mutat. 2008 Jun;29(6):803-8. doi: 10.1002/humu.20720. Hum Mutat. 2008. PMID: 18409191

41

Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.

Qian J, Deveault C, Bagga R, Xie X, Slim R. Qian J, et al. Hum Mutat. 2007 Jul;28(7):741. doi: 10.1002/humu.9498. Hum Mutat. 2007. PMID: 17579354

42

The genetics of hydatidiform moles: new lights on an ancient disease.

Slim R, Mehio A. Slim R, et al. Clin Genet. 2007 Jan;71(1):25-34. doi: 10.1111/j.1399-0004.2006.00697.x. Clin Genet. 2007. PMID: 17204043 Review.

43

Familial molar tissues due to mutations in the inflammatory gene, NALP7, have normal postzygotic DNA methylation.

Djuric U, El-Maarri O, Lamb B, Kuick R, Seoud M, Coullin P, Oldenburg J, Hanash S, Slim R. Djuric U, et al. Hum Genet. 2006 Oct;120(3):390-5. doi: 10.1007/s00439-006-0192-3. Epub 2006 Jul 28. Hum Genet. 2006. PMID: 16874523

44

Detailed gene and allele content analysis of three homozygous KIR haplotypes.

Murdoch S, Seoud M, Kircheisen R, Mazhar B, Slim R. Murdoch S, et al. Tissue Antigens. 2006 Jul;68(1):72-7. doi: 10.1111/j.1399-0039.2006.00606.x. Tissue Antigens. 2006. PMID: 16774543

45

Familial hydatidiform molar pregnancy: the germline imprinting defect hypothesis?

El-Maarri O, Slim R. El-Maarri O, et al. Curr Top Microbiol Immunol. 2006;301:229-41. doi: 10.1007/3-540-31390-7_8. Curr Top Microbiol Immunol. 2006. PMID: 16570850 Review.

46

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.

Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R. Murdoch S, et al. Nat Genet. 2006 Mar;38(3):300-2. doi: 10.1038/ng1740. Epub 2006 Feb 5. Nat Genet. 2006. PMID: 16462743

47

Evidence of a genetic heterogeneity of familial hydatidiform moles.

Slim R, Fallahian M, Rivière JB, Zali MR. Slim R, et al. Placenta. 2005 Jan;26(1):5-9. doi: 10.1016/j.placenta.2004.04.001. Placenta. 2005. PMID: 15664405

48

Patients with familial biparental hydatidiform moles have normal methylation at imprinted genes.

El-Maarri O, Seoud M, Rivière JB, Oldenburg J, Walter J, Rouleau G, Slim R. El-Maarri O, et al. Eur J Hum Genet. 2005 Apr;13(4):486-90. doi: 10.1038/sj.ejhg.5201353. Eur J Hum Genet. 2005. PMID: 15657620

49

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

El-Maarri O, Seoud M, Coullin P, Herbiniaux U, Oldenburg J, Rouleau G, Slim R. El-Maarri O, et al. Hum Mol Genet. 2003 Jun 15;12(12):1405-13. doi: 10.1093/hmg/ddg152. Hum Mol Genet. 2003. PMID: 12783848

50

The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3) is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies.

Van den Veyver IB, Norman B, Tran CQ, Bourjac J, Slim R. Van den Veyver IB, et al. J Soc Gynecol Investig. 2001 Sep-Oct;8(5):305-13. doi: 10.1016/s1071-5576(01)00129-0. J Soc Gynecol Investig. 2001. PMID: 11677152

51

Two families from New England with usher syndrome type IC with distinct haplotypes.

DeAngelis MM, McGee TL, Keats BJ, Slim R, Berson EL, Dryja TP. DeAngelis MM, et al. Am J Ophthalmol. 2001 Mar;131(3):355-8. doi: 10.1016/s0002-9394(00)00807-2. Am J Ophthalmol. 2001. PMID: 11239869

52

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R. Mégarbané A, et al. Am J Med Genet. 2001 Jan 22;98(3):244-9. doi: 10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w. Am J Med Genet. 2001. PMID: 11169562

53

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. Verpy E, et al. Nat Genet. 2000 Sep;26(1):51-5. doi: 10.1038/79171. Nat Genet. 2000. PMID: 10973247

54

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C. Marlin S, et al. Hum Mutat. 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10533063

55

A familial case of recurrent hydatidiform molar pregnancies with biparental genomic contribution.

Helwani MN, Seoud M, Zahed L, Zaatari G, Khalil A, Slim R. Helwani MN, et al. Hum Genet. 1999 Jul-Aug;105(1-2):112-5. doi: 10.1007/s004399900088. Hum Genet. 1999. PMID: 10480363

56

Genetic mapping of a maternal locus responsible for familial hydatidiform moles.

Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R. Moglabey YB, et al. Hum Mol Genet. 1999 Apr;8(4):667-71. doi: 10.1093/hmg/8.4.667. Hum Mol Genet. 1999. PMID: 10072436

57

Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.

Mouglabey YB, Nimri S, Sayegh F, El Zir E, Slim R. Mouglabey YB, et al. Clin Genet. 1998 Aug;54(2):155-8. doi: 10.1111/j.1399-0004.1998.tb03720.x. Clin Genet. 1998. PMID: 9761396

58

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R. Saouda M, et al. Hum Genet. 1998 Aug;103(2):193-8. doi: 10.1007/s004390050806. Hum Genet. 1998. PMID: 9760205

59

Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.

Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R. Mustapha M, et al. J Med Genet. 1998 Mar;35(3):202-4. doi: 10.1136/jmg.35.3.202. J Med Genet. 1998. PMID: 9541103 Free PMC article.

60

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. Chaïb H, et al. Hum Mol Genet. 1997 Jan;6(1):27-31. doi: 10.1093/hmg/6.1.27. Hum Mol Genet. 1997. PMID: 9002666

61

A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.

Vincent C, Kalatzis V, Compain S, Levilliers J, Slim R, Graia F, Pereira ML, Nivelon A, Croquette MF, Lacombe D, et al. Vincent C, et al. Hum Mol Genet. 1994 Oct;3(10):1859-66. doi: 10.1093/hmg/3.10.1859. Hum Mol Genet. 1994. PMID: 7849713

62

Assignments of 37 YAC clones to R-banded chromosomes by fluorescent in situ hybridization.

Slim R, Machavoine C, Bernheim A. Slim R, et al. Cytogenet Cell Genet. 1994;65(1-2):104-7. doi: 10.1159/000133611. Cytogenet Cell Genet. 1994. PMID: 8404059

63

Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses.

Slim R, Soulié J, Hotmar J, Lecolier B, Bercau G, Bernheim A. Slim R, et al. Prenat Diagn. 1994 Jan;14(1):23-8. doi: 10.1002/pd.1970140105. Prenat Diagn. 1994. PMID: 8183834

64

Rearrangements between irradiated chromosomes in three-species radiation hybrid cell lines revealed by two-color in situ hybridization.

Philippe C, Nguyen VC, Slim R, Holvoet-Vermaut L, Hors-Cayla MC, Bernheim A. Philippe C, et al. Hum Genet. 1993 Aug;92(1):11-7. doi: 10.1007/BF00216138. Hum Genet. 1993. PMID: 8365721

65

A cytokine receptor gene cluster in the X-Y pseudoautosomal region?

Kremer E, Baker E, D'Andrea RJ, Slim R, Phillips H, Moretti PA, Lopez AF, Petit C, Vadas MA, Sutherland GR, et al. Kremer E, et al. Blood. 1993 Jul 1;82(1):22-8. Blood. 1993. PMID: 8100720 Free article.

66

Construction of a yeast artificial chromosome contig spanning the pseudoautosomal region and isolation of 25 new sequence-tagged sites.

Slim R, Le Paslier D, Compain S, Levilliers J, Ougen P, Billault A, Donohue SJ, Klein DC, Mintz L, Bernheim A, et al. Slim R, et al. Genomics. 1993 Jun;16(3):691-7. doi: 10.1006/geno.1993.1249. Genomics. 1993. PMID: 8100802

67

A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation.

Slim R, Levilliers J, Lüdecke HJ, Claussen U, Nguyen VC, Gough NM, Horsthemke B, Petit C. Slim R, et al. Genomics. 1993 Apr;16(1):26-33. doi: 10.1006/geno.1993.1135. Genomics. 1993. PMID: 8486369

68

Localization of 15 cosmids on human chromosome 22 by fluorescence in situ hybridization.

Lévy N, Lamour V, Danglot G, Slim R, Lipinski M, Bernheim A. Lévy N, et al. C R Acad Sci III. 1993;316(5):482-6. C R Acad Sci III. 1993. PMID: 8221231

69

The neurofibromatosis 1 gene transcripts expressed in peripheral nerve and neurofibromas bear the additional exon located in the GAP domain.

Teinturier C, Danglot G, Slim R, Pruliere D, Launay JM, Bernheim A. Teinturier C, et al. Biochem Biophys Res Commun. 1992 Oct 30;188(2):851-7. doi: 10.1016/0006-291x(92)91134-c. Biochem Biophys Res Commun. 1992. PMID: 1280127

70

Relative order determination of four Yp cosmids on metaphase and interphase chromosomes by two-color competitive in situ hybridization.

Slim R, Weissenbach J, Nguyen VC, Danglot G, Bernheim A. Slim R, et al. Hum Genet. 1991 Nov;88(1):21-6. doi: 10.1007/BF00204923. Hum Genet. 1991. PMID: 1959921

71

The human placental protein 14 (PP14) gene is localized on chromosome 9q34.

Van Cong N, Vaisse C, Gross MS, Slim R, Milgrom E, Bernheim A. Van Cong N, et al. Hum Genet. 1991 Mar;86(5):515-8. doi: 10.1007/BF00194645. Hum Genet. 1991. PMID: 2016092

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