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

af Slim, Rima, Wallace, Evan P.
Udgivet 2013

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

af Bolze, Pierre-Adrien, Slim, Rima
Udgivet i EBioMedicine (2016)

Mono-pronuclear zygotes: a possible manifestation of androgenetic monospermic hydatidiform moles

af Martin, Jacinta Hope, Slim, Rima
Udgivet i F S Rep (2021)

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

af Nguyen, Ngoc Minh Phuong, Slim, Rima
Udgivet 2014

A Strong Founder Effect for two NLRP7 Mutations in the Indian Population: an Intriguing observation

af Slim, Rima, Bagga, Rashmi, Chebaro, Wafaa, Srinivasan, Radhika, Agarwal, Neerja
Udgivet 2009

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

af Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn
Udgivet 2009

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

af Reddy, Ramesh, Fahiminiya, Somayyeh, El Zir, Elie, Mansour, Ahmad, Megarbane, Andre, Majewski, Jacek, Slim, Rima
Udgivet 2014

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

af Singer, Heike, Biswas, Arijit, Zimmer, Nicole, Messaed, Christiane, Oldenburg, Johannes, Slim, Rima, El-Maarri, Osman
Udgivet 2014

NLRP7, a Nucleotide Oligomerization Domain-like Receptor Protein, Is Required for Normal Cytokine Secretion and Co-localizes with Golgi and the Microtubule-organizing Center

af Messaed, Christiane, Akoury, Elie, Djuric, Ugljesa, Zeng, Jibin, Saleh, Maya, Gilbert, Lucy, Seoud, Muhieddine, Qureshi, Salman, Slim, Rima
Udgivet 2011

Recurrent Triploid and Dispermic Conceptions in Patients with NLRP7 Mutations

af Slim, Rima, Ao, Asangla, Surti, Urvashi, Zhang, Li, Hoffner, Lori, Arseneau, Jocelyne, Cheung, Annie, Chebaro, Wafaa, Wischmeijer, Anita
Udgivet 2011

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

af Rezaei, Maryam, Nguyen, Ngoc Minh Phuong, Foroughinia, Leila, Dash, Pratima, Ahmadpour, Fatemeh, Verma, Ishwar Chandra, Slim, Rima, Fardaei, Majid
Udgivet i Hum Genome Var (2016)

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

af Sills, E. Scott, Obregon-Tito, Alexandra J., Gao, Harry, McWilliams, Thomas K., Gordon, Anthony T., Adams, Catharine A., Slim, Rima
Udgivet i Clin Exp Reprod Med (2017)

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

af Eisenberger, Tobias, Slim, Rima, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten, Bolz, Hanno Jörn
Udgivet 2012

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

af Aguinaga, Mónica, Rezaei, Maryam, Monroy, Irma, Mechtouf, Nawel, Pérez, Javier, Moreno, Elsa, Valdespino, Yolotzin, Galaz, Carolina, Razo, Guadalupe, Medina, Daniela, Piña, Raúl, Slim, Rima
Udgivet i J Assist Reprod Genet (2021)

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

af Qian, JianHua, Nguyen, Ngoc Minh Phuong, Rezaei, Maryam, Huang, Bo, Tao, YongLing, Zhang, XiaoFei, Cheng, Qi, Yang, HanJin, Asangla, Ao, Majewski, Jacek, Slim, Rima
Udgivet i Eur J Hum Genet (2018)

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

af Reddy, Ramesh, Akoury, Elie, Phuong Nguyen, Ngoc Minh, Abdul-Rahman, Omar A, Dery, Christine, Gupta, Neerja, Daley, William P, Ao, Asangla, Landolsi, Hanene, Ann Fisher, Rosemary, Touitou, Isabelle, Slim, Rima
Udgivet 2013

NLRP7 Promotes Choriocarcinoma Growth and Progression through the Establishment of an Immunosuppressive Microenvironment

af Reynaud, Deborah, Abi Nahed, Roland, Lemaitre, Nicolas, Bolze, Pierre-Adrien, Traboulsi, Wael, Sergent, Frederic, Battail, Christophe, Filhol, Odile, Sapin, Vincent, Boufettal, Houssine, Hoffmann, Pascale, Aboussaouira, Touria, Murthi, Padma, Slim, Rima, Benharouga, Mohamed, Alfaidy, Nadia
Udgivet i Cancers (Basel) (2021)

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

af Choufani, Sanaa, Shapiro, Jonathan S., Susiarjo, Martha, Butcher, Darci T., Grafodatskaya, Daria, Lou, Youliang, Ferreira, Jose C., Pinto, Dalila, Scherer, Stephen W., Shaffer, Lisa G., Coullin, Philippe, Caniggia, Isabella, Beyene, Joseph, Slim, Rima, Bartolomei, Marisa S., Weksberg, Rosanna
Udgivet 2011

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

af Nguyen, Ngoc Minh Phuong, Ge, Zhao-Jia, Reddy, Ramesh, Fahiminiya, Somayyeh, Sauthier, Philippe, Bagga, Rashmi, Sahin, Feride Iffet, Mahadevan, Sangeetha, Osmond, Matthew, Breguet, Magali, Rahimi, Kurosh, Lapensee, Louise, Hovanes, Karine, Srinivasan, Radhika, Van den Veyver, Ignatia B., Sahoo, Trilochan, Ao, Asangla, Majewski, Jacek, Taketo, Teruko, Slim, Rima
Udgivet i Am J Hum Genet (2018)

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

af Reddy, Ramesh, Nguyen, Ngoc M P, Sarrabay, Guillaume, Rezaei, Maryam, Rivas, Mayra C G, Kavasoglu, Aysenur, Berkil, Hakan, Elshafey, Alaa, Abdalla, Ebtesam, Nunez, Kristin P, Dreyfus, Hélène, Philippe, Merviel, Hadipour, Zahra, Durmaz, Asude, Eaton, Erin E, Schubert, Brittany, Ulker, Volkan, Hadipour, Fatemeh, Touitou, Isabelle, Fardaei, Majid, Slim, Rima
Udgivet i Eur J Hum Genet (2016)