OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment-Reference-Cited by-同舟云学术

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

Published:2012-10-04 Issue:1 Volume:84 Page:86-90
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Thauvin-Robinet C,Thomas S¹,Sinico M²,Aral B,Burglen L³,Gigot N,Dollfus H⁴,Rossignol S⁵,Raynaud M⁶,Philippe C⁷,Badens C⁸,Touraine R⁹,Gomes C¹,Franco B,Lopez E¹⁰,Elkhartoufi N,Faivre L,Munnich A,Boddaert N,Maldergem L Van,Encha-Razavi F,Lyonnet S,Vekemans M,Escudier E,Attié-Bitach T

Affiliation:

1. Unité INSERM U781 et Fondation IMAGINE; Université Paris Descartes, Sorbonne Paris Cité, France Hôpital Necker-Enfants-Malades; Paris; France

2. Service d'Anatomopathologie; Centre Hospitalier Intercommunal de Créteil; Créteil; France

3. Service de Génétique et Embryologie médicales; Hôpital Trousseau, Assistance Publique - Hôpitaux de Paris (AP-HP); Paris; France

4. Département de Génétique; CHRU; Strasbourg; France

5. Service d'explorations fonctionnelles; Hôpital Trousseau, APHP; Paris; France

6. Laboratoire de Génétique Moléculaire; CHU; Tours; France

7. Laboratoire de Génétique Moléculaire; Hôpital Brabois, CHU; Nancy; France

8. Département de génétique médicale; CHU de Marseille - Hôpital de la Timone; Marseille; France

9. Département de Génétique; CHU Saint-Etienne; Saint-Etienne; France

10. EA 4721 GAD, IFR Santé STIC; Université de Bourgogne; Dijon; France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference7 articles.

1. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome;Budny;Hum Genet,2006

2. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin;Coene;Am J Hum Genet,2009

3. Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia;Juric-Sekhar;Acta Neuropathol,2012

4. Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations;Field;Eur J Hum Genet,2012

5. Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients;Tsurusaki;Clin Genet,2012

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2. Primary ciliary dyskinesia in a child with type II Simpson -Golabi - Bemel syndrome due to OFD1 gene mutation;PULMONOLOGIYA;2023-04-14

3. A novel non-sense variant in the OFD1 gene caused Joubert syndrome;Frontiers in Genetics;2023-01-10

4. INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex;Nature Communications;2022-10-13

5. Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review;European Journal of Medical Genetics;2022-06