In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses-Reference-Cited by-同舟云学术

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses

Published:2017-11-28 Issue:4 Volume:110 Page:382-389
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Alby Caroline¹²,Boutaud Lucile¹²,Bonnière Maryse²,Collardeau-Frachon Sophie³⁴,Guibaud Laurent⁴⁵,Lopez Estelle⁶⁷,Bruel Ange-Line⁶⁷,Aral Bernard⁶⁷,Sonigo Pascale⁸,Roth Philippe⁹,Vibert-Guigue Claude¹⁰,Castaigne Vanina¹¹,Carbonne Bruno¹²,Joyé Nicole¹³,Faivre Laurence⁶⁷,Cordier Marie-Pierre¹⁴,Bernabe Gelot Antoinette¹⁵,Clementi Maurizio¹⁶,Mammi Isabella¹⁷,Vekemans Michel¹²,Razavi Féréchté¹²,Gonzales Marie²¹³,Thauvin-Robinet Christel⁶⁷,Attié-Bitach Tania¹²^ORCID

Affiliation:

1. INSERM U1163, Institut Imagine; Université Paris Descartes; Paris France

2. Unité d'Embryofoetopathologie, Service d'Histologie-Embryologie-Cytogénétique; Hôpital Necker-Enfants Malades, APHP; Paris France

3. Département d'anatomopathologie; Hôpital-Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France

4. Université Claude Bernard Lyon I, CHU de Lyon; Lyon France

5. Service de radiologie; Hôpital-Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France

6. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Grand-Est, Hôpital d'Enfants; FHU TRANSLAD CHU Dijon Bourgogne, Dijon, France

7. UMR 1231, GAD Inserm Université de Bourgogne; Dijon France

8. Service de Radiologie Pédiatrique; Hôpital Necker-Enfants Malades, APHP; Paris France

9. Service de Gynécologie Obstétrique, Necker-Enfants Malades, APHP; Paris France

10. Service de Gynécologie-Obstétrique; Groupe Hospitalier Pitié-Salpêtrière, APHP; Paris France

11. Unité de Diagnostic Anténatal, Service de Gynécologie Obstétrique; Hôpital Intercommunal de Créteil; Créteil Cedex France

12. Service Département de Gynécologie-Obstétrique; Hôpital Princesse Grace; Monaco

13. Département de Génétique Médicale; Hôpital Armand Trousseau, APHP, UPMC-Sorbonne Universités; Paris France

14. Service de génétique, groupement hospitalier Est, HCL; Bron France

15. Service d'anatomie pathologique; Hôpital Armand-Trousseau, APHP; Paris, France

16. Sezione di Genetica Clinica Epidemiologica; Dipartimento di Pediatria, Azienda Ospedaliera Universitaria di Padova; Padova Italia

17. Ambulatorio di Genetica Medica, Ospedale Dolo; Dolo Italia

Funder

ANR

Agence de la Biomédecine

Fondation pour la Recherche Médicale

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. The ciliogenic transcription factor RFX3 regulates early midline distribution of guidepost neurons required for corpus callosum development;Benadiba;PLoS Genetics,2012

2. Primary cilia control telencephalic patterning and morphogenesis via Gli3 proteolytic processing;Besse;Development,2011

3. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin;Coene;American Journal of Human Genetics,2009

4. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum;Connacher;Journal of Medical Genetics,1987

5. Studies of a family with the oral-facial-digital syndrome;Doege;The New England Journal of Medicine,1964

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