Danielle Martinet

Publications | Mémoires et thèses

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36 publications

2017 | 2016 | 2015 | 2014 | 2013 | 2012 | 2011 | 2010 | 2009 | 2008 | 2007 | 2006 | 1999 | 1996 |
2017
 
Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?
El Chehadeh S., Touraine R., Prieur F., Reardon W., Bienvenu T., Chantot-Bastaraud S., Doco-Fenzy M., Landais E., Philippe C., Marle N. et al., 2017/04. Clinical genetics, 91 (4) pp. 576-588. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7C85AAC15298]
2016
 
IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.
Fellmann F., Angelini F., Wassenberg J., Perreau M., Arenas Ramirez N., Simon G., Boyman O., Demaria O., Christen-Zaech S., Hohl D. et al., 2016. Journal of Allergy and Clinical Immunology, 137 (4) pp. 1189-96.e1-2. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_D933D1DD0E0F]
2015
A single epidermal stem cell strategy for safe ex vivo gene therapy.
Droz-Georget Lathion S., Rochat A., Knott G., Recchia A., Martinet D., Benmohammed S., Grasset N., Zaffalon A., Besuchet Schmutz N., Savioz-Dayer E. et al., 2015. Embo Molecular Medicine, 7 (4) pp. 380-393. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_A482C5A3A43D]
2014
 
Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist.
Capobianco S., Lava S.A., Bianchetti M.G., Martinet D., Belfiore M., Ramelli G.P., Ferrarini A., 2014. Developmental Medicine and Child Neurology, 56 (3) p. 290.
[DOI][WoS][Pmid][serval:BIB_68302281E83E]
 
Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.
Marle N., Martinet D., Aboura A., Joly-Helas G., Andrieux J., Flori E., Puechberty J., Vialard F., Sanlaville D., Fert Ferrer S. et al., 2014. Clinical Genetics, 85 (3) pp. 233-244. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_4185500E191A]
2013
 
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Kannu P., Campos-Xavier A.B., Hull D., Martinet D., Ballhausen D., Bonafé L., 2013. European Journal of Medical Genetics, 56 (8) pp. 452-457. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_6F6E1036FB5F]
 
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.
Dauber A., Golzio C., Guenot C., Jodelka F.M., Kibaek M., Kjaergaard S., Leheup B., Martinet D., Nowaczyk M.J., Rosenfeld J.A. et al., 2013. American Journal of Human Genetics, 93 (5) pp. 798-811. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_CFDAC5AB879E]
 
Short stature, complex cardiac defects, and developmental delay associated with a de novo microduplication of chromosome 15q13.2q13
Hauschild M, Martinet D, Phan Hug F, Stoppa S, Cassatella D, Dwyer A, Pitteloud N, Addor MC, 2013. dans Congrès de la Société Suisse d'endocrinologie pédiatrique, Septembre 2013.
[serval:BIB_44463DC58A99]
2012
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F., Sherr E.H., Beckmann N.D., Hanson E., Maillard A.M., Hippolyte L., Macé A., Ferrari C., Kutalik Z., Andrieux J. et al., 2012. Journal of Medical Genetics, 49 (10) pp. 660-668. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_26004E3F396F]
Presence of an oligodendroglioma-like component in newly diagnosed glioblastoma identifies a pathogenetically heterogeneous subgroup and lacks prognostic value: central pathology review of the EORTC_26981/NCIC_CE.3 trial.
Hegi M.E., Janzer R.C., Lambiv W.L., Gorlia T., Kouwenhoven M.C., Hartmann C., von Deimling A., Martinet D., Besuchet Schmutz N., Diserens A.C. et al., 2012. Acta Neuropathologica, 123 (6) pp. 841-852. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_6613022C4BFB]
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P., Kulkarni S., Dharmadhikari A.V., Sampath S., Bhatt S.S., Shaikh T.H., Xia Z., Pursley A.N., Cooper M.L., Shinawi M. et al., 2012. Human Mutation, 33 (1) pp. 165-179.
[URN][DOI][WoS][Pmid][serval:BIB_821E7FE324C6]
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
DeScipio C., Conlin L., Rosenfeld J., Tepperberg J., Pasion R., Patel A., McDonald M.T., Aradhya S., Ho D., Goldstein J. et al., 2012. American Journal of Medical Genetics. Part A, 158A (9) pp. 2152-2161.
[URN][DOI][WoS][Pmid][serval:BIB_CD56226D884A]
2011
16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn.
Zufferey F., Martinet D., Osterheld M.C., Niel-Bütschi F., Giannoni E., Schmutz N.B., Xia Z., Beckmann J.S., Shaw-Smith C., Stankiewicz P. et al., 2011. Pediatric Critical Care Medicine, 12 (6) pp. e427-e432.
[URN][DOI][WoS][Pmid][serval:BIB_747CB93CF782]
 
Antagonism of mGluR5 in Fragile X: A Randomized, Placebo-Controlled, Proof-of-Concept Study of AFQ056, a Novel, Sub-Type Selective mGluR5 Antagonist
Gomez-Mancilla B., Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K.i.m., He Y. et al., 2011. p. 25 dans 7th International Meeting on Metabotropic Glutamate Receptors, Current Neuropharmacology. Peer-reviewed.
[WoS][serval:BIB_A0E03400D098]
 
Biopsie à l'aiguille fine et analyse moléculaire dans le mélanome de l'uvée
Moulin A., Schalenbourg A., Zografos L., Beckmann J., Martinet D., 2011., Société Suisse d'Ophtalmologie pp. S48 dans Ophta.
[serval:BIB_2D6DC0C28240]
 
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Jacquemont S., Curie A., des Portes V., Torrioli M.G., Berry-Kravis E., Hagerman R.J., Ramos F.J., Cornish K., He Y., Paulding C. et al., 2011. Science Translational Medicine, 3 (64) pp. 64ra1.
[DOI][WoS][Pmid][serval:BIB_945CB8727509]
 
Extent and patterns of MGMT promoter methylation in glioblastoma- and respective glioblastoma-derived spheres.
Sciuscio D., Diserens A.C., van Dommelen K., Martinet D., Jones G., Janzer R.C., Pollo C., Hamou M.F., Kaina B., Stupp R. et al., 2011. Clinical Cancer Research, 17 (2) pp. 255-266.
[DOI][WoS][Pmid][serval:BIB_8D444B905B51]
High-level transgene expression by homologous recombination-mediated gene transfer.
Grandjean M., Girod P.A., Calabrese D., Kostyrko K., Wicht M., Yerly F., Mazza C., Beckmann J.S., Martinet D., Mermod N., 2011. Nucleic Acids Research, 39 (15) pp. e104.
[URN][DOI][WoS][Pmid][serval:BIB_ADEE6654D99A]
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Jacquemont S., Reymond A., Zufferey F., Harewood L., Walters R.G., Kutalik Z., Martinet D., Shen Y., Valsesia A., Beckmann N.D. et al., 2011. Nature, 478 (7367) pp. 97-102.
[URN][DOI][WoS][Pmid][serval:BIB_9700E363D9A2]
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A., Rimoldi D., Martinet D., Ibberson M., Benaglio P., Quadroni M., Waridel P., Gaillard M., Pidoux M., Rapin B. et al., 2011. PLoS One, 6 (4) pp. e18369. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_5E0D3CDAAC7D]
 
Prevalence of t(11;19)(q21;p13) Translocation in Mucoepidermoid Carcinoma of the Conjunctiva
Martinet D., Besuchet N., Zografos L., Moulin A.P., 2011., Association for Research in Vision and Ophthalmology dans ARVO E-Abstract 4754. Peer-reviewed.
[serval:BIB_A0BB4429DCFA]
 
The phenotype of recurrent 10q22q23 deletions and duplications.
van Bon B.W., Balciuniene J., Fruhman G., Nagamani S.C., Broome D.L., Cameron E., Martinet D., Roulet E., Jacquemont S., Beckmann J.S. et al., 2011. European Journal of Human Genetics, 19 (4) pp. 400-408.
[DOI][WoS][Pmid][serval:BIB_3D6033553CEB]
2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
Walters R.G., Jacquemont S., Valsesia A., de Smith A.J., Martinet D., Andersson J., Falchi M., Chen F., Andrieux J., Lobbens S. et al., 2010/02/04. Nature, 463 (7281) pp. 671-675. Peer-reviewed.
[URN][DOI][WoS][Pmid][serval:BIB_779A2B29ACBA]
 
Puce a ADN: pourquoi et pour qui [Array CGH: why and to whom]
Ferrarini A., Jacquemont S., Popovic M.B., Bonafé L., Martinet D., 2010. Revue Médicale Suisse, 6 (237) pp. 390-396.
[Pmid][serval:BIB_33A9D18655C1]
2009
 
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome?
Ferrarini A., Osterheld M.C., Vial Y., de Viragh P.A., Cotting J., Martinet D., Beckmann J.S., Fellmann F., 2009. American journal of medical genetics. Part A, 149A (12) pp. 2661-5.
[DOI][WoS][Pmid][serval:BIB_D9BA43D9C73A]
 
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N., Rooms L., Vandeweyer G., van den Ende J., Reyniers E., Fichera M., Romano C., Delle Chiaie B., Mortier G., Menten B. et al., 2009. European Journal of Medical Genetics, 52 (2-3) pp. 94-100.
[DOI][WoS][Pmid][serval:BIB_5322455C9A14]
 
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier A.B., Martinet D., Bateman J., Belluoccio D., Rowley L., Tan T.Y., Baxová A., Gustavson K.H., Borochowitz Z.U., Innes A.M. et al., 2009. American Journal of Human Genetics, 84 (6) pp. 760-770.
[DOI][WoS][Pmid][serval:BIB_5E5E949BD2E0]
 
Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing.
Esnault G., Majocchi S., Martinet D., Besuchet-Schmutz N., Beckmann J.S., Mermod N., 2009. Molecular and Cellular Biology, 29 (9) pp. 2409-2418. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_8EBBCF62537B]
2008
 
Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection.
Chenuet S., Martinet D., Besuchet-Schmutz N., Wicht M., Jaccard N., Bon A.C., Derouazi M., Hacker D.L., Beckmann J.S., Wurm F.M., 2008. Biotechnology and Bioengineering, 101 (5) pp. 937-45. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_C3C9C19B9A5F]
2007
 
Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells.
Girod P.A., Nguyen D.Q., Calabrese D., Puttini S., Grandjean M., Martinet D., Regamey A., Saugy D., Beckmann J.S., Bucher P. et al., 2007/09. Nature Methods, 4 (9) pp. 747-753.
[DOI][WoS][Pmid][serval:BIB_FBEEC01204C1]
2006
 
Molecular cytogenetic characterization of doxorubicin-resistant neuroblastoma cell lines: evidence that acquired multidrug resistance results from a unique large amplification of the 7q21 region
Flahaut M., Muhlethaler-Mottet A., Martinet D., Fattet S., Bourloud K. B., Auderset K., Meier R., Schmutz N. B., Delattre O., Joseph J. M. et al., 2006/05. Genes, Chromosomes and Cancer, 45 (5) pp. 495-508.
[DOI][WoS][Pmid][serval:BIB_D316B09D4233]
Fast generation of high producer cho cell lines by an iterative transfection process
Girod P.A., Grandjean M., Calabrese D., Martinet D., Beckmann J., Mermod N., 2006. pp. S41 dans 4th Recombinant Protein Production Meeting, Microbial Cell Factories. Peer-reviewed.
[URN][DOI][serval:BIB_B2EC90518D2B]
 
Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity.
Martinet D., Vial Y., Thonney F., Beckmann J.S., Meagher-Villemure K., Unger S., 2006. American Journal of Medical Genetics. Part A, 140 (7) pp. 769-774. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_7E905F14CAE4]
 
Genetic characterization of CHO production host DG44 and derivative recombinant cell lines
Derouazi M., Martinet D., Besuchet Schmutz N., Flaction R., Wicht M., Bertschinger M., Hacker D. L., Beckmann J. S., Wurm F. M., 2006. Biochemical and Biophysical Research Communications, 340 (4) pp. 1069-77. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_591A760B0B33]
1999
 
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.
van der Reijden B.A., Dauwerse H.G., Giles R.H., Jagmohan-Changur S., Wijmenga C., Liu P.P., Smit B., Wessels H.W., Beverstock G.C., Jotterand-Bellomo M. et al., 1999/01/14. Oncogene, 18 (2) pp. 543-550. Peer-reviewed.
[DOI][WoS][Pmid][serval:BIB_48523476B3B4]
1996
 
Simple method for detection of MYH11 DNA rearrangements in patients with inv(16)(p13q22) and acute myeloid leukemia.
van der Reijden B.A., Martinet D., Dauwerse J.G., Giles R.H., Wessels J.W., Beverstock G.C., Smit B., Mühlematter D., Jotterand Bellomo M., Gabert J. et al., 1996/09. Leukemia, 10 (9) pp. 1459-1462. Peer-reviewed.
[WoS][Pmid][serval:BIB_7898ADC0B96B]
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