Literature DB >> 19650864

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

R Slim, R Bagga, W Chebaro, R Srinivasan, N Agarwal.   

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Year:  2009        PMID： 19650864      PMCID： PMC3823573          DOI： 10.1111/j.1399-0004.2009.01189.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  16 in total

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2.  A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.

Authors:  Y C Kou; L Shao; H H Peng; R Rosetta; D del Gaudio; A F Wagner; T K Al-Hussaini; I B Van den Veyver
Journal:  Mol Hum Reprod       Date:  2007-11-26       Impact factor: 4.025

3.  Recurrent hydatidiform mole: a report of five cases with review of the literature.

Authors:  N M Kronfol; F A Iliya; S N Hajj
Journal:  J Med Liban       Date:  1969

4.  Gestational trophoblastic disease. Subsequent pregnancy outcome, including repeat molar pregnancy.

Authors:  R S Berkowitz; S S Im; M R Bernstein; D P Goldstein
Journal:  J Reprod Med       Date:  1998-01       Impact factor: 0.142

5.  Repeat gestational trophoblastic disease.

Authors:  P K Sand; J R Lurain; J I Brewer
Journal:  Obstet Gynecol       Date:  1984-02       Impact factor: 7.661

6.  Clinicopathologic characteristics and subsequent pregnancy outcome in 139 complete hydatidiform moles.

Authors:  L-C Horn; J Kowalzik; K Bilek; C E Richter; J Einenkel
Journal:  Eur J Obstet Gynecol Reprod Biol       Date:  2006-03-10       Impact factor: 2.435

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

Authors:  Sharlene Murdoch; Ugljesa Djuric; Batool Mazhar; Muheiddine Seoud; Rabia Khan; Rork Kuick; Rashmi Bagga; Renate Kircheisen; Asangla Ao; Bhawna Ratti; Samir Hanash; Guy A Rouleau; Rima Slim
Journal:  Nat Genet       Date:  2006-02-05       Impact factor: 38.330

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

Authors:  Catherine Deveault; Jian Hua Qian; Wafaa Chebaro; Asangla Ao; Lucy Gilbert; Amira Mehio; Rabia Khan; Seang Lin Tan; Anita Wischmeijer; Philippe Coullin; Xing Xie; Rima Slim
Journal:  Hum Mol Genet       Date:  2008-12-09       Impact factor: 6.150

9.  Risk of recurrent hydatidiform mole and subsequent pregnancy outcome following complete or partial hydatidiform molar pregnancy.

Authors:  N J Sebire; R A Fisher; M Foskett; H Rees; M J Seckl; E S Newlands
Journal:  BJOG       Date:  2003-01       Impact factor: 6.531

10.  Unusual presentation of choriocarcinoma.

Authors:  PG Balagopal; Manoj Pandey; K Chandramohan; Thara Somanathan; Ashwin Kumar
Journal:  World J Surg Oncol       Date:  2003-04-17       Impact factor: 2.754
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Review 1.  Molecular genetic studies of complete hydatidiform moles.

Authors:  Louise Carey; Benjamin M Nash; Dale C Wright
Journal:  Transl Pediatr       Date:  2015-04

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

Authors:  Ramesh Reddy; Elie Akoury; Ngoc Minh Phuong Nguyen; Omar A Abdul-Rahman; Christine Dery; Neerja Gupta; William P Daley; Asangla Ao; Hanene Landolsi; Rosemary Ann Fisher; Isabelle Touitou; Rima Slim
Journal:  Eur J Hum Genet       Date:  2012-12-12       Impact factor: 4.246

Review 3.  Inflammasomes and their activation.

Authors:  Sonal Khare; Nancy Luc; Andrea Dorfleutner; Christian Stehlik
Journal:  Crit Rev Immunol       Date:  2010       Impact factor: 2.214

4.  Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.

Authors:  Lukas Soellner; Matthias Begemann; Franziska Degenhardt; Annegret Geipel; Thomas Eggermann; Elisabeth Mangold
Journal:  Eur J Hum Genet       Date:  2017-05-31       Impact factor: 4.246

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

Authors:  Ramesh Reddy; Ngoc M P Nguyen; Guillaume Sarrabay; Maryam Rezaei; Mayra C G Rivas; Aysenur Kavasoglu; Hakan Berkil; Alaa Elshafey; Ebtesam Abdalla; Kristin P Nunez; Hélène Dreyfus; Merviel Philippe; Zahra Hadipour; Asude Durmaz; Erin E Eaton; Brittany Schubert; Volkan Ulker; Fatemeh Hadipour; Fatemeh Ahmadpour; Isabelle Touitou; Majid Fardaei; Rima Slim
Journal:  Eur J Hum Genet       Date:  2016-03-09       Impact factor: 4.246

6.  Abnormal processing of IL-1β in NLRP7-mutated monocytes in hydatidiform mole patients.

Authors:  P Zhang; X Zhu; X Yu; B Huang; T Jiang; X Zhang; H Yang; J Qian
Journal:  Clin Exp Immunol       Date:  2020-07-06       Impact factor: 4.330

7.  Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles.

Authors:  JianHua Qian; Ngoc Minh Phuong Nguyen; Maryam Rezaei; Bo Huang; YongLing Tao; XiaoFei Zhang; Qi Cheng; HanJin Yang; Ao Asangla; Jacek Majewski; Rima Slim
Journal:  Eur J Hum Genet       Date:  2018-04-25       Impact factor: 4.246

Review 8.  NLRP7: From inflammasome regulation to human disease.

Authors:  Jessica Carriere; Andrea Dorfleutner; Christian Stehlik
Journal:  Immunology       Date:  2021-06-30       Impact factor: 7.215

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

Authors:  Mónica Aguinaga; Maryam Rezaei; Irma Monroy; Nawel Mechtouf; Javier Pérez; Elsa Moreno; Yolotzin Valdespino; Carolina Galaz; Guadalupe Razo; Daniela Medina; Raúl Piña; Rima Slim
Journal:  J Assist Reprod Genet       Date:  2021-03-22       Impact factor: 3.357

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

Authors:  Rima Slim; Evan P Wallace
Journal:  Front Immunol       Date:  2013-08-20       Impact factor: 7.561
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