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Items: 1 to 20 of 74

1.

[Patients with variations of sex development : an example of interdisciplinary care].

Phan-Hug F, Kraus C, Paoloni-Giacobino A, Fellmann F, Typaldou SA, Ansermet F, Alamo L, Eggert N, Pelet O, Vial Y, Muehlethaler V, Birraux J, Ramseyer P, Renteria SC, Dwyer A, Pitteloud N, Meyrat BJ.

Rev Med Suisse. 2016 Nov 9;12(538):1923-1929. French.

PMID:
28696598
2.

[Multidisciplinary cardiogenetic counselling].

Fellmann F, Jeanrenaud X, Sekarski N, Michaud K, Hersch D, Fodstad H, Bhuiyan ZA, Schläpfer J.

Rev Med Suisse. 2017 May 24;13(564):1094-1099. French.

PMID:
28639772
3.

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Pipilas DC, Johnson CN, Webster G, Schlaepfer J, Fellmann F, Sekarski N, Wren LM, Ogorodnik KV, Chazin DM, Chazin WJ, Crotti L, Bhuiyan ZA, George AL Jr.

Heart Rhythm. 2016 Oct;13(10):2012-9. doi: 10.1016/j.hrthm.2016.06.038. Epub 2016 Jul 1.

4.

Pheochromocytoma Masked by Mutation in the TH Gene.

Abid K, Afshar K, Fontana E, Ducry J, Rotman S, Stauffer E, Fellmann F, Tschopp O, Bhuiyan ZA, Grouzmann E.

Clin Chem. 2016 Jul;62(7):924-8. doi: 10.1373/clinchem.2015.248443. No abstract available.

5.

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.

Zemrani B, Cachat F, Bonny O, Giannoni E, Durig J, Fellmann F, Chehade H.

Eur J Med Res. 2016 Apr 30;21:19. doi: 10.1186/s40001-016-0215-z.

6.

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, Belfiore M, von Scheven-Gete A, Gilliet M, Bochud PY, Perrin Y, Beck Popovic M, Bart PA, Beckmann JS, Martinet D, Hofer M.

J Allergy Clin Immunol. 2016 Apr;137(4):1189-1196.e2. doi: 10.1016/j.jaci.2015.07.053. Epub 2015 Nov 20.

PMID:
26607704
7.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC.

Eur J Hum Genet. 2015 Nov;23(11):1592. doi: 10.1038/ejhg.2015.109. No abstract available.

8.

Sudden cardiac death among general population and sport related population in forensic experience.

Chappex N, Schlaepfer J, Fellmann F, Bhuiyan ZA, Wilhelm M, Michaud K.

J Forensic Leg Med. 2015 Oct;35:62-8. doi: 10.1016/j.jflm.2015.07.004. Epub 2015 Aug 1.

PMID:
26344462
9.

Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach.

Wilhelm M, Bolliger SA, Bartsch C, Fokstuen S, Gräni C, Martos V, Medeiros Domingo A, Osculati A, Rieubland C, Sabatasso S, Saguner AM, Schyma C, Tschui J, Wyler D, Bhuiyan ZA, Fellmann F, Michaud K.

Swiss Med Wkly. 2015 Jun 22;145:w14129. doi: 10.4414/smw.2015.14129. eCollection 2015.

10.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC.

Eur J Hum Genet. 2015 Apr 1. doi: 10.1038/ejhg.2015.56. [Epub ahead of print] No abstract available.

11.

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics; American Society of Human Genetics.

Eur J Hum Genet. 2015 Nov;23(11):1438-50. doi: 10.1038/ejhg.2015.57. Epub 2015 Mar 18. Erratum in: Eur J Hum Genet. 2015 Nov;23(11):1592.

12.

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K.

Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12.

13.

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.

14.

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; EuroGentest and ESHG/PPPC Priority Consortium.

Eur J Hum Genet. 2015 Jun;23(6):729-35. doi: 10.1038/ejhg.2014.190. Epub 2014 Sep 24.

15.

[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
16.

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.

17.

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.

18.

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
19.

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.

20.

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.

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