Armand Bottani - Concepedia

Author

Armand Bottani

Also Known As

A Bottani, A. BOTTANI, A. Bottani, Ancliff, PJ, Armand Bottani, Bottani A, Bottani, Armand, Christian Korff, Shriver, Mark D.

118

Publications

6.8K

Citations

H-Index

Concepts

All Affiliations

University Hospital of Geneva University of Geneva Inserm University of Zurich Université Paris Cité

About

Armand Bottani is an author at University Hospital of Geneva specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	28	41	4K
2	Social Sciences	3	3	419
3	Education	1	1	21
4	Health Sciences	1	1	31
5	Public Health	1	1	59

Armand Bottani

Publications

6.2K

Citations

H-Index

Page 1

	Year	Citations
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Nature Genetics Genome InstabilityDevelopmental BiologyGenetic DisorderGeneticsLange Syndrome	2004	715
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Nature Gene DosageGeneticsHuman PolymorphismMolecular GeneticsChromosome 16P11.2	2011	474
High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome Virginie Bubien, Françoise Bonnet, Véronique Brouste, Journal of Medical Genetics	2013	358
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy Maria D. Lalioti, Hamish S. Scott, Catherine Burési, Nature Progressive Myoclonus EpilepsyGeneticsNeuroscienceCystatin B GeneNeuropathology	1997	354
Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report Hanan Hamamy, Stylianos E. Antonarakis, Luigi Luca Cavalli-Sforza, Genetics in Medicine Intimate RelationshipGender StudiesSociologyConsanguineous MarriagesForced Marriage	2011	333
Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Robert Lyle, Frédérique Béna, Sarantis Gagos, European Journal of Human Genetics Down SyndromeArray CghCytogeneticsGenetic DisorderGenetics	2008	325
Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome) Christiane Zweier, Maarit Peippo, Juliane Hoyer, The American Journal of Human Genetics Clinical DisordersPsychiatryPitt-hopkins SyndromeIntermittent HyperventilationNeurology	2007	312
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients Wendy P. Robinson, Armand Bottani, J Balakrishman, PubMed	1991	280
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa, Nature Genetics Mendelian DisorderGenetic DisorderMedicineGeneticsHeterozygous Missense Mutations	2012	243
Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome María Clara Bonaglia, Roberto Giorda, Silvana Beri, PLoS Genetics	2011	223

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