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Results: 1 to 20 of 56

1.

Sudden cardiac death in the young (5-39 years) in the canton of Vaud, Switzerland.

Hofer F, Fellmann F, Schläpfer J, Michaud K.

BMC Cardiovasc Disord. 2014 Oct 7;14:140. doi: 10.1186/1471-2261-14-140.

PMID:
25291980
[PubMed - in process]
Free PMC Article
2.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH.

Eur J Hum Genet. 2014 Sep 24. doi: 10.1038/ejhg.2014.190. [Epub ahead of print]

PMID:
25248395
[PubMed - as supplied by publisher]
3.

[Rare vascular diseases].

Calanca L, Depairon M, Tribout B, Aebischer N, Burnier M, Fellmann F, Lazor R, Mazzolai L.

Rev Med Suisse. 2014 Feb 5;10(416):347-50, 352. French.

PMID:
24624629
[PubMed - indexed for MEDLINE]
4.

Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM; ESHG Public and Professional Policy Committee.

Eur J Hum Genet. 2013 Jun;21 Suppl 1:S1-5. No abstract available.

PMID:
23819146
[PubMed]
Free PMC Article
5.

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.

van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM; ESHG Public and Professional Policy Committee.

Eur J Hum Genet. 2013 Jun;21(6):580-4. doi: 10.1038/ejhg.2013.46. No abstract available.

PMID:
23676617
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.

Spring P, Fellmann F, Giraud S, Clayton H, Hohl D.

Am J Dermatopathol. 2013 Apr;35(2):241-5. doi: 10.1097/DAD.0b013e318259b593.

PMID:
23542717
[PubMed - indexed for MEDLINE]
7.

Two new families with hereditary minimal change disease.

Chehade H, Cachat F, Girardin E, Rotman S, Correia AJ, Fellmann F, Bonny O.

BMC Nephrol. 2013 Mar 22;14:65. doi: 10.1186/1471-2369-14-65.

PMID:
23517548
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P.

Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12.

PMID:
23505205
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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, Bourrouillou G, Tabet AC, Quilichini B, Simon-Bouy B, Bazin A, Becker M, Stora H, Amblard S, Doco-Fenzy M, Molina Gomes D, Girard-Lemaire F, Cordier MP, Satre V, Schneider A, Lemeur N, Chambon P, Jacquemont S, Fellmann F, Vigouroux-Castera A, Molignier R, Delaye A, Pipiras E, Liquier A, Rousseau T, Mosca AL, Kremer V, Payet M, Rangon C, Mugneret F, Aho S, Faivre L, Callier P.

Clin Genet. 2014 Mar;85(3):233-44. doi: 10.1111/cge.12138. Epub 2013 Apr 5.

PMID:
23489061
[PubMed - in process]
10.

A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P.

BMC Med Genet. 2012 Nov 10;13:105. doi: 10.1186/1471-2350-13-105.

PMID:
23140321
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

[Are genetic tests useful for cardiovascular prevention?].

Bochud M, Fellmann F, Guessous I.

Rev Med Suisse. 2012 Mar 7;8(331):519-20, 522-4. French.

PMID:
22471114
[PubMed - indexed for MEDLINE]
12.

Mitochondrial A3243G mutation with manifestation of acute dilated cardiomyopathy.

Stalder N, Yarol N, Tozzi P, Rotman S, Morris M, Fellmann F, Schwitter J, Hullin R.

Circ Heart Fail. 2012 Jan;5(1):e1-3. doi: 10.1161/CIRCHEARTFAILURE.111.963900. No abstract available.

PMID:
22253408
[PubMed - indexed for MEDLINE]
Free Article
13.

HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.

Kichine E, Rozé V, Di Cristofaro J, Taulier D, Navarro A, Streichemberger E, Decarpentrie F, Metzler-Guillemain C, Lévy N, Chiaroni J, Paquis-Flucklinger V, Fellmann F, Mitchell MJ.

Hum Reprod. 2012 Feb;27(2):615-24. doi: 10.1093/humrep/der421. Epub 2011 Dec 8.

PMID:
22158087
[PubMed - indexed for MEDLINE]
Free Article
14.

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 AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

PMID:
21948486
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.

Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

PMID:
21881559
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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 MC, Niel-Bütschi F, Giannoni E, Schmutz NB, Xia Z, Beckmann JS, Shaw-Smith C, Stankiewicz P, Langston C, Fellmann F.

Pediatr Crit Care Med. 2011 Nov;12(6):e427-32. doi: 10.1097/PCC.0b013e3182192c96.

PMID:
21572369
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

Grilo LS, Schläpfer J, Fellmann F, Abriel H.

Ann Noninvasive Electrocardiol. 2011 Apr;16(2):213-8. doi: 10.1111/j.1542-474X.2011.00419.x.

PMID:
21496174
[PubMed - indexed for MEDLINE]
18.

Successful heart and liver transplantation in a Swiss patient with Glu89Lys transthyretin amyloidosis.

Niederhauser J, Lobrinus JA, Ochsner F, Wider C, Fellmann F, Yerly P, Antonino AT, Saraiva MJ, Moradpour D, Kuntzer T.

Transplantation. 2011 Mar 27;91(6):e40-2. doi: 10.1097/TP.0b013e318208c0a2. No abstract available.

PMID:
21383601
[PubMed - indexed for MEDLINE]
19.

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.

de Prada Merino A, Bütschi FN, Bouchardy I, Beckmann JS, Morris MA, Hafen GM, Fellmann F.

J Cyst Fibros. 2010 Dec;9(6):447-9. doi: 10.1016/j.jcf.2010.08.014. Epub 2010 Sep 28.

PMID:
20880762
[PubMed - indexed for MEDLINE]
Free Article
20.

[The example of cystic fibrosis to highlight the complexity of genetic screening].

Bochud M, Fellmann F, Vader JP, Grosse S, Paccaud F, Guessous I.

Rev Med Suisse. 2010 Jul 14;6(256):1395-9. French.

PMID:
20701015
[PubMed - indexed for MEDLINE]

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