Joelle Roume

Joelle Roume

UNVERIFIED PROFILE

Are you Joelle Roume?   Register this Author

Register author
Joelle Roume

Joelle Roume

Publications by authors named "Joelle Roume"

Are you Joelle Roume?   Register this Author

42Publications

2960Reads

32Profile Views

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

Am J Med Genet A 2019 04 14;179(4):639-644. Epub 2019 Feb 14.

Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61050DOI Listing
April 2019

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

Am J Hum Genet 2014 Feb 16;94(2):288-94. Epub 2014 Jan 16.

Institut National de la Santé et de la Recherche Médicale U983, Hôpital Necker-Enfants Malades, 75015 Paris, France; Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928807PMC
February 2014

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

J Invest Dermatol 2010 Jun 7;130(6):1537-42. Epub 2010 Jan 7.

Laboratoire de Biochimie hormonale et génétique, Hôpital Bichat, APHP, Université Paris VII, 46 Rue Henri Huchard, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2009.409DOI Listing
June 2010

Pancreatic involvement in hereditary hemorrhagic telangiectasia: assessment with multidetector helical CT.

Radiology 2010 Feb;254(2):479-84

Department of Radiology, Pluridisciplinary HHT Center, Hôpital Ambroise Paré, Assistance Publique-Hôpitaux de Paris, Université Paris Ile-de-France Ouest, 9, avenue Charles de Gaulle, 92104 Boulogne CEDEX, France.

View Article

Download full-text PDF

Source
http://pubs.rsna.org/doi/10.1148/radiol.09090096
Publisher Site
http://dx.doi.org/10.1148/radiol.09090096DOI Listing
February 2010

Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings.

Prenat Diagn 2006 Dec;26(12):1110-4

Department of Obstetrics and Gynecology, CHI Poissy, Poissy Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1560DOI Listing
December 2006

Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness.

Prenat Diagn 2006 Apr;26(4):369-72

Department of Obstetrics and Gynecology, Université Paris Ile de France Ouest, CHI Poissy-Saint-Germain en Laye, 10 Rue du Champ Gaillard, 78300 Poissy, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1423DOI Listing
April 2006

Unusual variant of holoprosencephaly in monosomy 13q.

Pediatr Dev Pathol 2002 Mar-Apr;5(2):170-8

Service d'Anatomie Pathologique, CHU, Hôpital Morvan, 29609 Brest Cedex, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10024001-0200-5DOI Listing
June 2002