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

Autor Slim, Rima, Wallace, Evan P.
Vydáno 2013

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

Autor Bolze, Pierre-Adrien, Slim, Rima
Vydáno v EBioMedicine (2016)

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

Autor Martin, Jacinta Hope, Slim, Rima
Vydáno v F S Rep (2021)

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

Autor Nguyen, Ngoc Minh Phuong, Slim, Rima
Vydáno 2014

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

Autor Slim, Rima, Bagga, Rashmi, Chebaro, Wafaa, Srinivasan, Radhika, Agarwal, Neerja
Vydáno 2009

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

Autor Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn
Vydáno 2009

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

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

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

Autor Singer, Heike, Biswas, Arijit, Zimmer, Nicole, Messaed, Christiane, Oldenburg, Johannes, Slim, Rima, El-Maarri, Osman
Vydáno 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

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

Recurrent Triploid and Dispermic Conceptions in Patients with NLRP7 Mutations

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

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

Autor Rezaei, Maryam, Nguyen, Ngoc Minh Phuong, Foroughinia, Leila, Dash, Pratima, Ahmadpour, Fatemeh, Verma, Ishwar Chandra, Slim, Rima, Fardaei, Majid
Vydáno v 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

Autor Sills, E. Scott, Obregon-Tito, Alexandra J., Gao, Harry, McWilliams, Thomas K., Gordon, Anthony T., Adams, Catharine A., Slim, Rima
Vydáno v 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

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

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

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

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

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

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

Autor 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
Vydáno 2013

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

Autor 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
Vydáno v Cancers (Basel) (2021)

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

Autor 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
Vydáno 2011

Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles

Autor 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
Vydáno v Am J Hum Genet (2018)

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

Autor 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
Vydáno v Eur J Hum Genet (2016)