J. Roume - Concepedia

Author

J. Roume

Also Known As

Bruno Leheup, J ROUME, J Roume, J. Roume, Joelle Roume, Joelle Roume (524842), Jolle Roume, Joëlle Roume, Roume Joelle, Victoria McKay

126

Publications

5.8K

Citations

H-Index

105

Concepts

All Affiliations

Inserm Centre Hospitalier Intercommunal de Poissy Sorbonne Université Assistance Publique – Hôpitaux de Paris Université Paris Cité

About

J. Roume is an author at Inserm specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	34	3.4K
2	Public Health	3	3	254
3	Health Sciences	1	1	19
4	Natural Sciences	1	1	98
5	Anatomy	1	1	19

J. Roume

Publications

5.2K

Citations

H-Index

Page 1

	Year	Citations
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. Anne-Sixtine Jobert, Alain Couvineau, Jacky Bonaventure, Journal of Clinical Investigation SclerostinGeneticsParathyroid DiseaseMolecular BiologyParathyroid Gland	1998	327
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis Olivier Gribouval, Marie Gonzalès, Thomas J. Neuhaus, Nature Genetics Renal FunctionDevelopmental BiologyGeneticsRenal PathologyRenin-angiotensin System	2005	287
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	2010	281
Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome Lekbir Baala, Sophie Audollent, Jelena Martinović, The American Journal of Human Genetics Mendelian DisorderDisease MechanismGenetic DisorderMeckel SyndromeGenetics	2007	280
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Genetics in Medicine Genotype-phenotype CorrelationsHereditary Hemorrhagic TelangiectasiaGenetic DisorderGeneticsGenetic Epidemiology	2007	224
Prenatal diagnosis of fetal skeletal dysplasias by combining two‐dimensional and three‐dimensional ultrasound and intrauterine three‐dimensional helical computer tomography Rodrigo Ruano, M. Molho, J. Roume, Ultrasound in Obstetrics and Gynecology	2004	165
The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy P Burlet, Céline Huber, Solange Bertrandy, Human Molecular Genetics	1998	147
Novel <i>FH</i> mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Journal of Medical Genetics	2011	140
Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction<sup>1</sup> John J. Wysolmerski, Sarah Cormier, William M. Philbrick, The Journal of Clinical Endocrinology & Metabolism	2001	129
Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease Jean Muller, Corinne Stoetzel, M. C. Vincent, Human Genetics Genetic DiseasesBardet–biedl Syndrome GenesGenetic DisorderMedicineGenetics	2010	127

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