Full Text Journal Articles by
Author Francine Arbez Gindre


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Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Mathilde Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Sophie Collardeau-Frachon, Tania Attie-Bitach, Paul Kuentz, Mirna Assoum, Elise Schaefer, Salima El Chehadeh, Maria Cristina Antal, Valérie Kremer, Françoise Girard-Lemaitre, Jean-Louis Mandel, Daphne Lehalle, Sophie Nambot, Nolwenn Jean-Marçais, Nada Houcinat, Sébastien Moutton, Nathalie Marle, Laetita Lambert, Philippe Jonveaux, Bernard Foliguet, Jean-Pierre Mazutti, Dominique Gaillard, Elisabeth Alanio, Celine Poirisier, Anne-Sophie Lebre, Marion Aubert-Lenoir, Francine Arbez-Gindre, Sylvie Odent, Chloé Quélin, Philippe Loget, Melanie Fradin, Marjolaine Willems, Nicole Bigi, Marie-José Perez, Sophie Blesson, Christine Francannet, Anne-Marie Beaufrere, Sophie Patrier-Sallebert, Anne-Marie Guerrot, Alice Goldenberg, Anne-Claire Brehin, James Lespinasse, Renaud Touraine, Yline Capri, Marie-Hélène Saint-Frison, Nicole Laurent, Christophe Philippe, Frederic Tran Mau-Them, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, Antonio Vitobello,

<h4>Purpose</h4>Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth individuals showing developmental abnormalities (30%), suggesting that standard analyses, based on the correlation between clinical hallmarks ... Read more >>

J Med Genet (Journal of medical genetics)
[2020, :]

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Development of Ovarian Tissue Autograft to Restore Ovarian Function: Protocol for a French Multicenter Cohort Study.

Jean-Baptiste Pretalli, Sophie Frontczak Franck, Lionel Pazart, Christophe Roux, Clotilde Amiot, ,

BACKGROUND:Sterility is a major late effect of radiotherapy and chemotherapy treatments. Iatrogenic sterility is often permanent and greatly impacts long-term quality of life. Ovarian tissue cryopreservation (OTC) performed before gonadotoxic treatments with subsequent autograft is a method of fertility preservation available for girls and women. Its application in prepubertal girls ... Read more >>

JMIR Res Protoc (JMIR research protocols)
[2019, 8(9):e12944]

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Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard,

A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2019, 62(9):103539]

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How to Explore Fetal Sacral Agenesis Without Open Dysraphism: Key Prenatal Imaging and Clinical Implications.

Nicolas Mottet, Yann Chaussy, Frederic Auber, Fabien Guimiot, Francine Arbez-Gindre, Didier Riethmuller, Célia Cretolle, Alexandra Benachi,

The estimated prevalence of fetal caudal dysgenesis is 1 per 100,000 births. The functional prognosis of sacral agenesis is dominated by the large spectrum of associated caudal malformations. Except for cases associated with hydrocephalus secondary to open spinal dysraphism or chromosomal anomalies, association with mental deficiency is rare. We propose ... Read more >>

J Ultrasound Med (Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine)
[2018, 37(7):1807-1820]

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Complete Response to Aflibercept-FOLFIRI in One Patient With Colorectal Cancer Refractory to Bevacizumab-FOLFOX: A Possible Autocrine Vascular Endothelial Growth Factor Receptor 2-Related Mechanism.

Stefano Kim, Anne Cayre, Marine Jary, Marion Jacquin, Francine Arbez-Gindre, Francine Fein, Zaher Lakkis, Thierry Nguyen, Christophe Borg,

Clin Colorectal Cancer (Clinical colorectal cancer)
[2016, 15(4):e229-e234]

Cited: 1 time

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[Authorization of pathologists for the estimation of the tumor cell percentage on tissue sample for molecular analysis purpose].

Alexandra Luquain, Francine Arbez-Gindre, Isabelle Bedgedjian, Sophie Felix, Jean-Marie Harimenshi, Ionela-Marcela Mihai, Franck Monnien, Cristina Singeorzan, Séverine Valmary-Degano,

Before molecular analysis is performed, morphological control with an estimation of the tumour cell percentage (%TC) could have a major impact on mutation detection. Accreditation according to NF EN ISO 15189 commands an authorization through evaluation of skills. The objective of this work was to validate the empowerment of pathologists to estimate %TC ... Read more >>

Ann Pathol (Annales de pathologie)
[2016, 36(4):268-274]

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Primary Linitis Plastica of the Rectum: Focus on Magnetic Resonance Imaging Patterns and Treatment Options.

Jihane Boustani, Stefano Kim, Nicolas Lescut, Zaher Lakkis, Marjolaine de Billy, Francine Arbez-Gindre, Marine Jary, Christophe Borg, Jean-François Bosset,

Rectal linitis plastica (RLP) is a rare disease with poor outcome. It is often accompanied by a delayed histopathological diagnosis, primarily due to submucosal disease. A concentric ring pattern or "target sign" on T2-weighted magnetic resonance imaging (MRI) has been proposed as being characteristic for early suspicion. Even though RLP ... Read more >>

Am J Case Rep (The American journal of case reports)
[2015, 16:581-585]

Cited: 4 times

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Echinococcus ortleppi infections in humans and cattle, France.

Frédéric Grenouillet, Gérald Umhang, Francine Arbez-Gindre, Georges Mantion, Eric Delabrousse, Laurence Millon, Franck Boué,

In 2011 and 2012, liver infections caused by Echinococcus ortleppi tapeworms were diagnosed in 2 humans in France. In 2012, a nationwide slaughterhouse survey identified 7 E. ortleppi infections in cattle. The foci for these infections were spatially distinct. The prevalence of E. ortleppi infections in France may be underestimated. ... Read more >>

Emerg Infect Dis (Emerging infectious diseases)
[2014, 20(12):2100-2102]

Cited: 16 times

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Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Juliette Piard, Brigitte Mignot, Francine Arbez-Gindre, Didier Aubert, Yves Morel, Virginie Roze, Kenneth McElreavy, Philippe Jonveaux, Mylène Valduga, Lionel Van Maldergem,

The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2014, 164A(10):2618-2622]

Cited: 10 times

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Signature patterns of human papillomavirus type 16 in invasive anal carcinoma.

Séverine Valmary-Degano, Elise Jacquin, Jean-Luc Prétet, Franck Monnien, Benoit Girardo, Francine Arbez-Gindre, Marie Joly, Jean-François Bosset, Bernadette Kantelip, Christiane Mougin,

Many studies have reported that most invasive anal carcinomas contain high-risk human papillomaviruses (HPVs), HPV16 being the most prevalent type. This study aimed to investigate HPV status and cellular biomarkers in invasive anal cancers. HPV genotype distribution was determined in 76 anal cancers by the INNO-LiPA assay (Innogenetics, Gent, Belgium). ... Read more >>

Hum Pathol (Human pathology)
[2013, 44(6):992-1002]

Cited: 24 times

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Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia.

Juliette Piard, Corinne Collet, Francine Arbez-Gindre, Andriamisandrata Nirhy-Lanto, Lionel Van Maldergem,

We describe a multiple malformation syndrome comprising coronal craniosynostosis, unilateral radial ray hypoplasia and diaphragmatic hernia in a 33w female fetus born to a 46 y-old male with an alleged personal and family history of Crouzon syndrome. By identifying an already described c.445C>T TWIST missense mutation, we were able to ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2012, 55(12):719-722]

Cited: 3 times

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Prognostic value of phosphorylated STAT3 in advanced rectal cancer: a study from 104 French patients included in the EORTC 22921 trial.

Franck Monnien, Harouna Zaki, Christophe Borg, Christiane Mougin, Jean-François Bosset, Mariette Mercier, Francine Arbez-Gindre, Bernadette Kantelip,

<h4>Background</h4>Signal transducer and activator of transcription 3 (STAT3) has been implicated as an oncogene in several neoplastic diseases. However, the biological effects of STAT3 have not been extensively studied in rectal carcinogenesis.<h4>Aims</h4>To evaluate STAT3 activation in advanced rectal cancers and its association with clinicopathological variables and prognosis.<h4>Methods</h4>Nuclear immunohistochemical expression of ... Read more >>

J Clin Pathol (Journal of clinical pathology)
[2010, 63(10):873-878]

Cited: 18 times

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Hepatic stem-like phenotype and interplay of Wnt/beta-catenin and Myc signaling in aggressive childhood liver cancer.

Stefano Cairo, Carolina Armengol, Aurélien De Reyniès, Yu Wei, Emilie Thomas, Claire-Angélique Renard, Andrei Goga, Asha Balakrishnan, Michaela Semeraro, Lionel Gresh, Marco Pontoglio, Hélène Strick-Marchand, Florence Levillayer, Yann Nouet, David Rickman, Frédéric Gauthier, Sophie Branchereau, Laurence Brugières, Véronique Laithier, Raymonde Bouvier, Françoise Boman, Giuseppe Basso, Jean-François Michiels, Paul Hofman, Francine Arbez-Gindre, Hélène Jouan, Marie-Christine Rousselet-Chapeau, Dominique Berrebi, Luc Marcellin, François Plenat, Dominique Zachar, Madeleine Joubert, Janick Selves, Dominique Pasquier, Paulette Bioulac-Sage, Michael Grotzer, Margaret Childs, Monique Fabre, Marie-Annick Buendia,

Hepatoblastoma, the most common pediatric liver cancer, is tightly linked to excessive Wnt/beta-catenin signaling. Here, we used microarray analysis to identify two tumor subclasses resembling distinct phases of liver development and a discriminating 16-gene signature. beta-catenin activated different transcriptional programs in the two tumor types, with distinctive expression of hepatic ... Read more >>

Cancer Cell (Cancer cell)
[2008, 14(6):471-484]

Cited: 191 times

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The uterosacral complex: ligament or neurovascular pathway? Anatomical and histological study of fetuses and adults.

Rajeev Ramanah, Bernard Parratte, Francine Arbez-Gindre, Robert Maillet, Didier Riethmuller,

The aim of this study was to define the anatomical relationships of the uterosacral ligament complex (USLC) and to analyze histologically its content. Three fetal and four adult cadavers were used. Anatomical dissections were carried out. Eight fresh biopsies (four fetal and four adult) of the USLC were analyzed histologically ... Read more >>

Int Urogynecol J Pelvic Floor Dysfunct (International urogynecology journal and pelvic floor dysfunction)
[2008, 19(11):1565-1570]

Cited: 13 times

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