Search Results - "Rypens, Françoise"

Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis by Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.

“…Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the…”
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104 by Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.

“…Joubert syndrome (JBTS) is a primarily autosomal-recessive disorder characterized by a distinctive mid-hindbrain and cerebellar malformation, oculomotor…”
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Intra-abdominal lymphatic malformation management in light of the updated International Society for the Study of Vascular Anomalies classification by Elbaaly, Heba, Piché, Nelson, Rypens, Françoise, Kleiber, Niina, Lapierre, Chantale, Dubois, Josée

“…Background The International Society for the Study of Vascular Anomalies (ISSVA) classification distinguishes between common lymphatic malformations and…”
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Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood by AVNI, Fred E, GUISSARD, Gretel, HALL, Michelle, JANSSEN, Francoise, DEMAERTELAER, Viviane, RYPENS, Francoise

“…To determine which US changes occur with time in children affected by autosomal recessive (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) and…”
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A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene by Mongrain, Valérie, van Doesburg, Nicolaas H, Rypens, Françoise, Fallet-Bianco, Catherine, Maassen, Justine, Dufort-Gervais, Julien, Côté, Lucie, Major, Philippe

“…Disease severity is tremendously variable in tuberous sclerosis complex (TSC). In contrast with the detailed guidelines available for TSC diagnosis and…”
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Neonatal congenital lung tumors — the importance of mid-second-trimester ultrasound as a diagnostic clue by Waelti, Stephan L., Garel, Laurent, Soglio, Dorothée Dal, Rypens, Françoise, Messerli, Michael, Dubois, Josée

“…Background The differential diagnosis for primary lung masses in neonates includes a variety of developmental abnormalities; it also consists of the much rarer…”
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Prenatal findings, neonatal symptoms and neurodevelopmental outcome of congenital cytomegalovirus infection in a university hospital in Montreal, Quebec by Minsart, Anne-Frédérique, Rypens, Françoise, Smiljkovic, Mina, Kakkar, Fatima, Renaud, Christian, Lamarre, Valérie, Boucher, Marc, Boucoiran, Isabelle

“…Background Outcome of congenital cytomegalovirus (cCMV) infection in the absence of routine CMV screening and third-trimester scan in North America is scarcely…”
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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations by Pacheco‐Cuéllar, Guillermo, Gauthier, Julie, Désilets, Valérie, Lachance, Christian, Lemire‐Girard, Marlène, Rypens, Françoise, Le Deist, Françoise, Decaluwe, Hélène, Duval, Michel, Bouron‐Dal Soglio, Dorothée, Kokta, Victor, Haddad, Élie, Campeau, Philippe M

“…ABSTRACT Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal…”
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Ultrasound findings in rapidly involuting congenital hemangioma (RICH) — beware of venous ectasia and venous lakes by Waelti, Stephan L., Rypens, Françoise, Damphousse, Amélie, Powell, Julie, Soulez, Gilles, Messerli, Michael, Dubois, Josée

“…Background Bleeding, ulceration and cardiac failure can occur in rapidly involuting congenital hemangioma (RICH). Bleeding intensity ranges from superficial to…”
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Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome by Lemire, Gabrielle T., Beauregard‐Lacroix, Éliane, Campeau, Philippe M., Parent, Stefan, Roy‐Beaudry, Marjolaine, Soglio, Dorothée Dal, Grignon, Andrée, Rypens, Françoise, Wavrant, Sandrine, Laberge, Anne‐Marie, Delrue, Marie‐Ange

“…Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which…”
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Prenatal presentation of glutaric aciduria type II: A case report with radiologic, clinical, biochemical, molecular, and pathological phenotyping by Carmant, Laurence, Karalis, Aspasia, Rypens, Françoise, Oligny, Luc, Wavrant, Sandrine, Lapeyraque, Anne‐Laure, Codsi, Elisabeth

“…We know that glutaric aciduria type II is an inborn metabolism. This case report highlights that polycystic kidneys with hepatomegaly in prenatal ultrasound…”
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Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature by Maftei, Catalina, Rypens, Françoise, Thiffault, Isabelle, Dubé, Johanne, Laberge, Anne-Marie, Lemyre, Emmanuelle

“…What's already known about this topic? Fibrodysplasia ossificans progressiva (FOP) (MIM: 135100) is a very rare autosomal dominant condition with a prevalence…”
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Prenatal diagnosis of cloverleaf skull: watch the hands by Gorincour, Guillaume, Rypens, Françoise, Grignon, Andrée, Garel, Laurent, Bortoluzzi, Patricia, Oligny, Luc, Lemyre, Emmanuelle, Duperron, Louise

“…Pfeiffer syndrome is an extremely rare autosomal-dominant condition whose prenatal diagnosis has only been reported 6 times, mainly on the basis of a fetal…”
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Incidence of deep vein thrombosis related to peripherally inserted central catheters in children and adolescents by Dubois, Josée, Rypens, Françoise, Garel, Laurent, David, Michèle, Lacroix, Jacques, Gauvin, France

“…Peripherally inserted central catheters (PICC) in children and adolescents are being used with increasing frequency. We sought to determine the incidence and…”
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Significance of lung anomalies in fetuses affected by tetralogy of Fallot with absent pulmonary valve syndrome by Tenisch, Estelle, Raboisson, Marie-Josée, Rypens, Françoise, Déry, Julie, Grignon, Andrée, Lapierre, Chantale

“…Tetralogy of Fallot with absent pulmonary valve syndrome is a rare form of tetralogy of Fallot with dilatation of large pulmonary arteries. Prognosis is…”
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First-trimester prediction of birth weight by Boucoiran, Isabelle, Djemli, Anissa, Taillefer, Catherine, Rypens, Françoise, Delvin, Edgard, Audibert, François

“…To determine whether the parameters used in first-trimester screening for aneuploidies contribute significantly to the prediction of birth weight. In this…”
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Complementary Role of MRI After Sonography in Assessing Bilateral Urinary Tract Anomalies in the Fetus by Cassart, Marie, Massez, Anne, Metens, Thierry, Rypens, Francoise, Lambot, M. Alexandra, Hall, Michelle, Avni, Fred E

“…The objectives of our study were to evaluate the contribution of adding MRI findings to inconclusive sonographic data when assessing fetal urinary tract…”
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Prognosis of kidneys prenatally affected by urinomas by Morisson-Lacombe, Gérard, Bourlière-Najean, Brigitte, Guys, Jean-Michel, Rypens, Françoise, Doucet-Bertrand, Valérie, Gorincour, Guillaume

“…PURPOSE To evaluate the postnatal functional prognosis of kidneys affected prenatally by urinomas, which seem to differ from the course of postnatal urinomas…”
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Prenatal diagnosis of femoral-facial syndrome: Report of two cases by Silvas, Emil, Rypens, Françoise, Jovanovic, Mubina, Delezoide, Anne-Lise, Patey, Natalie

“…BACKGROUND Femoral–facial syndrome (FFS), also known as femoral hypoplasia–unusual facial syndrome (FHUFS) is a rare disorder, which has been more frequently…”
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All large necrotic and hemorrhagic kidney tumors in children are not necessarily malignant: A case of a 7-month-old child by Bidaut, Anne-Sophie, Bouchard, Sarah, Samson, Yvan, Rypens, Françoise, Patey, Natalie, DalSoglio, Dorothée

“…We report the case of a large tumor in the left kidney with necrotic and hemorrhagic features in a 7-month-old child, which was clinically and radiologically…”
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