Full Text Journal Articles by
Author Fabien Guimiot

Advertisement

Find full text journal articles






PHOX2B Immunostaining: A Simple and Helpful Tool for the Recognition of Ganglionic Cells and Diagnosis of Hirschsprung Disease.

Philippe Drabent, Arnaud Bonnard, Fabien Guimiot, Michel Peuchmaur, Dominique Berrebi,

Hirschsprung disease (HD) is a congenital disorder of the enteric nervous system that occurs in ∼1 in 5000 live births. It is characterized by the absence of ganglionic cells (GCs) in the distal intestine. The diagnosis relies on the thorough analysis of a rectal suction biopsy (RSB), which must show ... Read more >>

Am. J. Surg. Pathol. (The American journal of surgical pathology)
[2020, :]

Cited: 0 times

View full text PDF listing >>



Single-Cell Transcriptomic Analyses of the Developing Meninges Reveal Meningeal Fibroblast Diversity and Function.

John DeSisto, Rebecca O'Rourke, Hannah E Jones, Bradley Pawlikowski, Alexandra D Malek, Stephanie Bonney, Fabien Guimiot, Kenneth L Jones, Julie A Siegenthaler,

The meninges are a multilayered structure composed of fibroblasts, blood and lymphatic vessels, and immune cells. Meningeal fibroblasts secrete a variety of factors that control CNS development, yet strikingly little is known about their heterogeneity or development. Using single-cell sequencing, we report distinct transcriptional signatures for fibroblasts in the embryonic ... Read more >>

Dev. Cell (Developmental cell)
[2020, 54(1):43-59.e4]

Cited: 0 times

View full text PDF listing >>



Advertisement

Decision-making based on sFlt-1/PlGF ratios: are immunoassay results interchangeable for diagnosis or prognosis of preeclampsia?

Guillaume Lefèvre, Alexandre Hertig, Jean Guibourdenche, Pacifique Lévy, Sophie Bailleul, Dominique Drouin, Florence Batusanski, Fabien Guimiot, Henri Boulanger,

Clin. Chem. Lab. Med. (Clinical chemistry and laboratory medicine)
[2020, :]

Cited: 0 times

View full text PDF listing >>



CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie Kubis, Nathalie Pouvreau, Marcella Zollino, Sophie Guilmin Crepon, Florentia Kaguelidou, Pierre Gressens, Alain Verloes, Anita Rauch, Vincent El Ghouzzi, Severine Drunat, Sandrine Passemard,

BACKGROUND:Primary hereditary microcephaly (MCPH) comprises a large group of autosomal recessive disorders mainly affecting cortical development and resulting in a congenital impairment of brain growth. Despite the identification of >25 causal genes so far, it remains a challenge to distinguish between different MCPH forms at the clinical level. METHODS:7 patients ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2020, 57(6):389-399]

Cited: 0 times

View full text PDF listing >>



Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases.

Sarah Taconet, Sophie Dreux, Fabien Guimiot, Magali Pettazzoni, Bichr Allaf, Emmanuel Spaggiari, Jonathan Rosenblatt, Suonavy Khung-Savatovsky,

OBJECTIVES:There are many causes of fetal effusions, including the rare lysosomal storage diseases (LSDs). Vacuolated lymphocytes (VLs) are found in the blood of infants with LSDs, and their presence in fetal effusion could increase the risk of underlying LSD. METHODS:Between 2006 and 2018, all fetal effusions samples from 43 fetal ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2020, 40(5):605-611]

Cited: 0 times

View full text PDF listing >>



CD117hi expression identifies a human fetal hematopoietic stem cell population with high proliferation and self-renewal potential.

Loïc Maillard, Sandra Sanfilippo, Carine Domenech, Nassima Kasmi, Laurence Petit, Sébastien Jacques, Anne-Lise Delezoide, Fabien Guimiot, Soria Eladak, Delphine Moison, Nour Nicolas, Virginie Rouiller-Fabre, Stéphanie Pozzi-Godin, Benoit Mennesson, Marie-Laure Brival, Franck Letourneur, Thierry Jaffredo, Christine Chomienne, Michèle Souyri,

Haematologica (Haematologica)
[2020, 105(2):e43-e47]

Cited: 0 times

View full text PDF listing >>



Spatiotemporal expansion of primary progenitor zones in the developing human cerebellum.

Parthiv Haldipur, Kimberly A Aldinger, Silvia Bernardo, Mei Deng, Andrew E Timms, Lynne M Overman, Conrad Winter, Steven N Lisgo, Ferechte Razavi, Evelina Silvestri, Lucia Manganaro, Homa Adle-Biassette, Fabien Guimiot, Rosa Russo, Debora Kidron, Patrick R Hof, Dianne Gerrelli, Susan J Lindsay, William B Dobyns, Ian A Glass, Paula Alexandre, Kathleen J Millen,

We present histological and molecular analyses of the developing human cerebellum from 30 days after conception to 9 months after birth. Differences in developmental patterns between humans and mice include spatiotemporal expansion of both ventricular and rhombic lip primary progenitor zones to include subventricular zones containing basal progenitors. The human ... Read more >>

Science (Science (New York, N.Y.))
[2019, 366(6464):454-460]

Cited: 1 time

View full text PDF listing >>



Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.

Maud Valensi, Gabrielle Goldman, Dominique Marchant, Loïc Van Den Berghe, Laurent Jonet, Alejandra Daruich, Matthieu P Robert, Eric Krejci, Christophe Klein, Frédéric Mascarelli, Claudine Versaux-Botteri, Alexandre Moulin, Marc Putterman, Fabien Guimiot, Thierry Molina, Benoît Terris, Dominique Brémond-Gignac, Francine Behar-Cohen, Marc M Abitbol,

PURPOSE:This study was conducted in order to study Sostdc1 expression in rat and human developing and adult eyes. METHODS:Using the yeast signal sequence trap screening method, we identified the Sostdc1 cDNA encoding a protein secreted by the adult rat retinal pigment epithelium. We determined by in situ hybridization, RT-PCR, immunohistochemistry, ... Read more >>

Graefes Arch. Clin. Exp. Ophthalmol. (Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie)
[2019, 257(11):2401-2427]

Cited: 0 times

View full text PDF listing >>



A cellular atlas of the developing meninges reveals meningeal fibroblast diversity and function

John DeSisto, Rebecca O’Rourke, Stephanie Bonney, Hannah Jones, Fabien Guimiot, Kenneth Jones, Julie Siegenthaler,

Abstract The meninges, a multilayered structure that encases the CNS, is composed mostly of fibroblasts, along with vascular and immune cells. Meningeal fibroblasts are a vital source of signals that control neuronal migration and neurogenesis yet strikingly little is known about their development. We used single cell RNA sequencing to ... Read more >>

()
[, :]

Cited: 0 times

View full text PDF listing >>



Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Laura Mary, Kirsley Chennen, Corinne Stoetzel, Manuela Antin, Anne Leuvrey, Elsa Nourisson, Elisabeth Alanio-Detton, Maria C Antal, Tania Attié-Bitach, Patrice Bouvagnet, Raymonde Bouvier, Annie Buenerd, Alix Clémenson, Louise Devisme, Bernard Gasser, Brigitte Gilbert-Dussardier, Fabien Guimiot, Philippe Khau Van Kien, Brigitte Leroy, Philippe Loget, Jelena Martinovic, Fanny Pelluard, Marie-Josée Perez, Florence Petit, Lucile Pinson, Caroline Rooryck-Thambo, Olivier Poch, Hélène Dollfus, Elise Schaefer, Jean Muller,

Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising ... Read more >>

Clin. Genet. (Clinical genetics)
[2019, 95(3):384-397]

Cited: 0 times

View full text PDF listing >>



Study of Human T21 Placenta Suggests a Potential Role of Mesenchymal Spondin-2 in Placental Vascular Development.

Pascale Gerbaud, Padma Murthi, Jean Guibourdenche, Fabien Guimiot, Benoît Sarazin, Danièle Evain-Brion, Josette Badet, Guillaume Pidoux,

Placental development is particularly altered in trisomy of chromosome 21 (T21)-affected pregnancies. We previously described in T21-affected placentae an abnormal paracrine crosstalk between the villus mesenchymal core and villus trophoblasts. T21-affected placentae are known to be characterized by their hypovascularity. However, the causes of this anomaly remain not fully elucidated. ... Read more >>

Endocrinology (Endocrinology)
[2019, 160(3):684-698]

Cited: 0 times

View full text PDF listing >>



TRAP Sequence in Monochorionic/Monoamniotic (MC/MA) Discordant Twins: Two Cases Treated with Fetoscopic Laser Surgery.

Gabriele Tonni, Gianpaolo Grisolia, Paolo Zampriolo, Federico Prefumo, Anna Fichera, Paola Bonasoni, Mathilde Lefebvre, Suonavy Khung-Savatovsky, Fabien Guimiot, Jonathan Rosenblatt, Edward Araujo Júnior,

INTRODUCTION:Ablation of the acardiac twin umbilical cord in the TRAP protects the normal donor twin. MATERIALS AND METHODS:Two case descriptions, one of interstitial laser photocoagulation and one of laser umbilical cord occlusion (L-UCO) of the acardiac twin in monochorionic monoamniotic pregnancies are reported. RESULTS:L-UCO in two pregnancies with TRAP syndrome ... Read more >>

Fetal Pediatr Pathol (Fetal and pediatric pathology)
[2018, 37(6):433-447]

Cited: 0 times

View full text PDF listing >>



Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Pascaline Létard, Fabien Guimiot, Céline Dupont, Jonathan Rosenblatt, Anne-Lise Delezoide, Suonavy Khung-Savatovsky,

Trisomy 13 or Patau syndrome (PS) is a well-known aneuploidy characterized by a polymalformative syndrome. We described a large series of fetuses with PS and compared them with cases described in the literature, most of which were live-born. In all, 42 fetuses, aged from 14 to 41 gestational weeks (GW), ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2018, 176(11):2325-2330]

Cited: 0 times

View full text PDF listing >>



Three-Dimensional Modelization of the Female Human Inferior Hypogastric Plexus: Implications for Nerve-Sparing Radical Hysterectomy.

Vincent Balaya, Fabien Guimiot, Jean-François Uhl, Charlotte Ngo, Myriam Delomenie, Hélène Bonsang-Kitzis, Marie Gosset, Myriam Mimouni, Anne-Sophie Bats, Vincent Delmas, Richard Douard, Fabrice Lécuru,

BACKGROUND/AIMS:This study aims to describe the autonomic nervous network of the female pelvis with a 3D model and to provide a safe plane of dissection during radical hysterectomy for cervical cancer. METHODS:Pelvises of 3 human female fetuses were studied by using the computer-assisted anatomic dissection. RESULTS:The superior hypogastric plexus (SHP) ... Read more >>

Gynecol. Obstet. Invest. (Gynecologic and obstetric investigation)
[2019, 84(2):196-203]

Cited: 0 times

View full text PDF listing >>



Studies in an Early Development Window Unveils a Severe HSC Defect in both Murine and Human Fanconi Anemia.

Carine Domenech, Loïc Maillard, Alix Rousseau, Fabien Guidez, Laurence Petit, Marika Pla, Denis Clay, Fabien Guimiot, Sandra Sanfilippo, Sebastien Jacques, Pierre de la Grange, Noémie Robil, Jean Soulier, Michèle Souyri,

Fanconi anemia (FA) causes bone marrow failure early during childhood, and recent studies indicate that a hematopoietic defect could begin in utero. We performed a unique kinetics study of hematopoiesis in Fancg-/- mouse embryos, between the early embryonic day 11.5 (E11.5) to E12.5 developmental window (when the highest level of ... Read more >>

Stem Cell Reports (Stem cell reports)
[2018, 11(5):1075-1091]

Cited: 2 times

View full text PDF listing >>



Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation in EFEMP2.

Pascaline Letard, Dorien Schepers, Juliette Albuisson, Patrick Bruneval, Emmanuel Spaggiari, Gerarda Van de Beek, Suonavy Khung-Savatovsky, Nadia Belarbi, Yline Capri, Anne-Lise Delezoide, Bart Loeys, Fabien Guimiot,

EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already ... Read more >>

Mol Syndromol (Molecular syndromology)
[2018, 9(4):190-196]

Cited: 1 time

View full text PDF listing >>



Placental Findings and Effect of Prophylactic Hydrocortisone in Extremely Preterm Infants.

Alice Héneau, Fabien Guimiot, Damir Mohamed, Aline Rideau Batista Novais, Corinne Alberti, Olivier Baud, ,

OBJECTIVES:To investigate the relationship between histologic findings of the placenta and response to early postnatal hydrocortisone treatment used to prevent bronchopulmonary dysplasia (BPD) in extremely preterm infants. METHODS:In an exploratory analysis of the Early Low-Dose Hydrocortisone to Improve Survival Without Bronchopulmonary Dysplasia in Extremely Preterm Infants (PREMILOC) trial, detailed placental ... Read more >>

Pediatrics (Pediatrics)
[2018, 141(2):]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



Molecular and Functional Characterization of Lymphoid Progenitor Subsets Reveals a Bipartite Architecture of Human Lymphopoiesis.

Kutaiba Alhaj Hussen, Thien-Phong Vu Manh, Fabien Guimiot, Elisabeth Nelson, Emna Chabaane, Marc Delord, Maxime Barbier, Claire Berthault, Nicolas Dulphy, Antonio José Alberdi, Odile Burlen-Defranoux, Gerard Socié, Jean Christophe Bories, Jerôme Larghero, Valérie Vanneaux, Els Verhoeyen, Thierry Wirth, Marc Dalod, Jean Claude Gluckman, Ana Cumano, Bruno Canque,

The classical model of hematopoiesis established in the mouse postulates that lymphoid cells originate from a founder population of common lymphoid progenitors. Here, using a modeling approach in humanized mice, we showed that human lymphoid development stemmed from distinct populations of CD127- and CD127+ early lymphoid progenitors (ELPs). Combining molecular ... Read more >>

Immunity (Immunity)
[2017, 47(4):680-696.e8]

Cited: 3 times

View full text PDF listing >>



Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.

Jonathan Lévy, Aurélie Coussement, Céline Dupont, Fabien Guimiot, Clarisse Baumann, Géraldine Viot, Sandrine Passemard, Yline Capri, Séverine Drunat, Alain Verloes, Eva Pipiras, Brigitte Benzacken, Jean-Michel Dupont, Anne-Claude Tabet,

Interstitial 2p15p16.1 microdeletion is a rare chromosomal syndrome previously reported in 33 patients. It is characterized by intellectual disability, developmental delay, autism spectrum disorders, microcephaly, short stature, dysmorphic features, and multiple congenital organ defects. It is defined as a contiguous gene syndrome and two critical regions have been proposed at ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2017, 173(8):2081-2087]

Cited: 3 times

View full text PDF listing >>



Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

Pascale Saugier-Veber, Florent Marguet, François Lecoquierre, Homa Adle-Biassette, Fabien Guimiot, Sara Cipriani, Sophie Patrier, Marie Brasseur-Daudruy, Alice Goldenberg, Valérie Layet, Yline Capri, Marion Gérard, Thierry Frébourg, Annie Laquerrière,

Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In ... Read more >>

Acta Neuropathol Commun (Acta neuropathologica communications)
[2017, 5(1):36]

Cited: 7 times

View full text PDF listing >>



Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Parthiv Haldipur, Derek Dang, Kimberly A Aldinger, Olivia K Janson, Fabien Guimiot, Homa Adle-Biasette, William B Dobyns, Joseph R Siebert, Rosa Russo, Kathleen J Millen,

FOXC1 loss contributes to Dandy-Walker malformation (DWM), a common human cerebellar malformation. Previously, we found that complete Foxc1 loss leads to aberrations in proliferation, neuronal differentiation and migration in the embryonic mouse cerebellum (Haldipur et al., 2014). We now demonstrate that hypomorphic Foxc1 mutant mice have granule and Purkinje cell ... Read more >>

Elife (eLife)
[2017, 6:]

Cited: 8 times

View full text PDF listing >>



Dynamic Expression Patterns of Progenitor and Neuron Layer Markers in the Developing Human Dentate Gyrus and Fimbria.

Sara Cipriani, Nathalie Journiac, Jeannette Nardelli, Catherine Verney, Anne-Lise Delezoide, Fabien Guimiot, Pierre Gressens, Homa Adle-Biassette,

The molecular mechanisms that orchestrate the development of the human dentate gyrus are not known. In this study, we characterized the formation of human dentate and fimbrial progenitors and postmitotic neurons from 9 gestational weeks (GW9) to GW25. PAX6+ progenitor cells remained proliferative until GW16 in the dentate ventricular zone. ... Read more >>

Cereb. Cortex (Cerebral cortex (New York, N.Y. : 1991))
[2017, 27(1):358-372]

Cited: 3 times

View full text PDF listing >>



Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases.

Aude Tessier, Mélie Sarreau, Fanny Pelluard, Gwenaelle André, Sophie Blesson, Martine Bucourt, Pierre Dechelotte, Laurence Faivre, Thierry Frébourg, Alice Goldenberg, Valérie Goua, Corinne Jeanne-Pasquier, Fabien Guimiot, Annie Laquerriere, Nicole Laurent, Mathilde Lefebvre, Philippe Loget, Martine Maréchaud, Charlotte Mechler, Marie-Josée Perez, Jean Christophe Sabourin, Alain Verloes, Sophie Patrier, Anne-Marie Guerrot,

Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported.We analyzed the prenatal and postnatal fetal phenotype in 38 cases of FS, including 25 pregnancy termination cases, 8 intra-uterine death cases and 4 cases ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2016, 36(13):1270-1275]

Cited: 3 times

View full text PDF listing >>



Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis.

Nicolas Mottet, Jelena Martinovic, Claire Baeza, Fabien Guimiot, Jean-Philippe Bault, Marie Cécile Aubry, Didier Riethmuller, Michel Zerah, Celia Cretolle, Alexandra Benachi,

There is no precise prenatal indicator to refine an accurate prognosis in case of sacral agenesis and to define the diagnostic approach and outcome criteria in case of fetal sacral agenesis using 3 characteristics of the conus medullaris (CM): its position, its appearance, and associated spinal abnormalities.Ten cases of prenatally ... Read more >>

Fetal. Diagn. Ther. (Fetal diagnosis and therapy)
[2017, 42(2):137-143]

Cited: 3 times

View full text PDF listing >>



Advertisement

Disclaimer
1.0694 s