Publications
UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescents.
Liebmann A, Admard J, Armeanu-Ebinger S, Wild H, Abele M, Gschwind A, Seibel-Kelemen O, Seitz C, Bonzheim I, Riess O, Demidov G, Sturm M, Schadeck M, Pogoda M, Bien E, Krawczyk M, Jüttner E, Mentzel T, Cesen M, Pfaff E, Kunc M, Forchhammer S, Forschner A,
EBioMedicine. 2023 Sep 14;96:104797
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo
Eur J Hum Genet. 2023 Aug 30
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van
J Med Genet. 2023 Aug 14
SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages.
Pons N, Fernández-Eulate G, Pegat A, Théaudin M, Guieu R, Ripellino P, Devedjian M, Mace P, Masingue M, Léonard-Louis S, Petiot P, Roche P, Bernard E, Bouhour F, Good JM, Verschueren A, Grapperon AM, Salort E, Grosset A, Chanson JB, Nadaj-Pakleza A, Bédat-Millet AL, Choumert A, Barnier A, Hamdi G, Lesca G, Prieur F, Bruneel A, Latour P, Stojkovic T, Attarian S, Bonello-Palot N
Eur J Neurol. 2023 Jul;30(7):2001-2011
Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1.
Rivera AMC, Fernández-Villa T, Martín V, Atallah I
Orphanet J Rare Dis. 2023 Jun 23;18(1):164
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother.
Royer-Bertrand B, Lebon S, Craig A, Maeder J, Mittaz-Crettol L, Fodstad H, Superti-Furga A, Good JM
Am J Med Genet A. 2023 Jun;191(6):1658-1663
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Koval A, Larasati YA, Savitsky M, Solis GP, Good JM, Quinodoz M, Rivolta C, Superti-Furga A, Katanaev VL
Med. 2023 May 12;4(5):311-325.e7
[Constitutional diseases of bone: clinical flags].
Debrach AC, Brégou A, Gonzalez Rodriguez E, Pejin Z, Kumps C, Craig A, Pavlidou DC, Atallah I
Rev Med Suisse. 2023 Apr 19;19(823):766-769
Biotinidase deficiency: What have we learned in forty years?
Tankeu AT, Van Winckel G, Elmers J, Jaccard E, Superti-Furga A, Wolf B, Tran C
Mol Genet Metab. 2023 Apr;138(4):107560
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefe
Eur J Hum Genet. 2023 Apr;31(4):461-468
[Is ketogenic diet effective against cancer ?].
Tankeu AT, Barigou M, Pedro R, De Micheli R, Bodmer A, Genton L, Collet TH, Tran C
Rev Med Suisse. 2023 Mar 22;19(819):576-580
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Tsuiko O, El Ayeb Y, Jatsenko T, Allemeersch J, Melotte C, Ding J, Debrock S, Peeraer K, Vanhie A, De Leener A, Pirard C, Kluyskens C, Denayer E, Legius E, Vermeesch JR, Brems H, Dimitriadou E
Hum Reprod. 2023 Mar 1;38(3):511-519
Overweight and obesity in adult patients with phenylketonuria: a systematic review.
Tankeu AT, Pavlidou DC, Superti-Furga A, Gariani K, Tran C
Orphanet J Rare Dis. 2023 Feb 22;18(1):37
Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Pomar L, Rieder W, Dubruc E, Giuliano F, Atallah I, Lebon S, Vial Y
Fetal Diagn Ther. 2023;50(2):92-97
Intrafamilial variability and neurological manifestations in two siblings with carbohydrate sulfotransferase 3-related skeletal dysplasia.
Rivera-Vargas J, Superti-Furga A, Bonafé L, Peña-Padilla C, Cortés-Pastrana RC, Bobadilla-Morales L, Corona-Rivera A, Corona-Rivera JR
Clin Dysmorphol. 2023 Jan 1;32(1):14-17
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno
Hum Mol Genet. 2022 Dec 16;31(24):4131-4142
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, Maurer F, Sekarski N, Atallah I, Émeline D, Jeanrenaud X, Pruvot E, Fellay J, Superti-Furga A
Eur J Med Genet. 2022 Dec;65(12):104627
[Molecular genetic diagnosis in children with cochlear implants in the Western french speaking part of Switzerland].
Fries S, Unger S, Cina V, Strom A, Paoloni-Giacobino A, Simon C, Senn P, Cao Van H
Rev Med Suisse. 2022 Oct 5;18(798):1855-1859
When Simple Phlebotomy Is the Cure: Porphyria Cutanea Tarda.
Pavlidou DC, Van Winckel G, Tran C
J Gen Intern Med. 2022 Oct;37(13):3489-3490
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome.
Atallah I, McCormick D, Good JM, Barigou M, Fraga M, Sempoux C, Superti-Furga A, Semple RK, Tran C
J Clin Lipidol. 2022 Sep-Oct;16(5):583-590
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, K
J Med Genet. 2022 Jul;59(7):697-705
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient.
Gschwind M, Garcia Segarra N, Schaller A, Bolognini R, Nuoffer JM, Hourez R, Deprez M, Lhermitte B, Maeder P, Tran C, Kuntzer T
Ann Clin Transl Neurol. 2022 Jun;9(6):888-892
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Mende
Prenat Diagn. 2022 Jun;42(7):901-910
Increased serum concentrations of estrogen-induced growth factors Midkine and FGF2 in NF1 patients with plexiform neurofibroma.
Atallah I, Cieza Rivera AM, Rivero Lezcano OM, Tascón-González L, González-Cortés C, Diez Tascón C, Fernández-Villa T, Martín V
Am J Transl Res. 2022;14(5):3180-3188
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di B
Brain. 2022 Mar 29;145(1):208-223
New Insight in Hyperinsulinism/Hyperammonemia Syndrome by Magnetic Resonance Imaging and Spectroscopy.
Gariani K, Klauser A, Vargas MI, Lazeyras F, Tran C
Brain Sci. 2022 Mar 15;12(3)
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
Quinodoz M, Peter VG, Cisarova K, Royer-Bertrand B, Stenson PD, Cooper DN, Unger S, Superti-Furga A, Rivolta C
Am J Hum Genet. 2022 Mar 3;109(3):457-470
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration.
Dentici ML, Alesi V, Quinodoz M, Robens B, Guerin A, Lebon S, Poduri A, Travaglini L, Graziola F, Afenjar A, Keren B, Licursi V, Capuano A, Dallapiccola B, Superti-Furga A, Novelli A
J Med Genet. 2022 Mar;59(3):262-269
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel). 2022 Jan 28;13(2)
[Chronic Fatigue: When to Suspect an Inherited Metabolic Disease?].
Tankeu AT, Tran C
Praxis (Bern 1994). 2022 Jan;110(1):38-43
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey.
van Wegberg AMJ, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki MS, Maillot F, van Spronsen FJ, Study Group on Missed PKU and Missed to Follow-Up
J Pediatr. 2021 Dec;239:231-234.e2
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
El Mouatani A, Van Winckel G, Zaafrane-Khachnaoui K, Whalen S, Achaiaa A, Kaltenbach S, Superti-Furga A, Vekemans M, Fodstad H, Giuliano F, Attie-Bitach T
Am J Med Genet A. 2021 Dec;185(12):3831-3837
Black cartilage: Incidentally discovered articular ochronosis during arthroplasty.
Kumps C, Stanovici J, Chaibi E, Campos-Xavier B, Pavlidou DC, Tran C
J Inherit Metab Dis. 2021 Nov;44(6):1503-1504
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
Royer-Bertrand B, Jequier Gygax M, Cisarova K, Rosenfeld JA, Bassetti JA, Moldovan O, O'Heir E, Burrage LC, Allen J, Emrick LT, Eastman E, Kumps C, Abbas S, Van Winckel G, Undiagnosed Diseases Network, Chabane N, Zackai EH, Lebon S, Keena B, Bhoj EJ, Umai
Mol Autism. 2021 Oct 26;12(1):69
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A,
Genet Med. 2021 Oct;23(10):1922-1932
Correction to: Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B, Lu H, Campos-Xavier B, Superti-Furga A, Hauschild M, Bouthors T, Tran C
BMC Endocr Disord. 2021 Sep 30;21(1):194
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity.
Haro E, Petit F, Pira CU, Spady CD, Lucas-Toca S, Yorozuya LI, Gray AL, Escande F, Jourdain AS, Nguyen A, Fellmann F, Good JM, Francannet C, Manouvrier-Hanu S, Ros MA, Oberg KC
Nat Commun. 2021 Sep 20;12(1):5533
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K(+) channelopathies.
Gripp KW, Smithson SF, Scurr IJ, Baptista J, Majumdar A, Pierre G, Williams M, Henderson LB, Wentzensen IM, McLaughlin H, Leeuwen L, Simon MEH, van Binsbergen E, Dinulos MBP, Kaplan JD, McRae A, Superti-Furga A, Good JM, Kutsche K
Eur J Hum Genet. 2021 Sep;29(9):1384-1395
Elevated lactate in Mauriac syndrome: still a mystery.
Touilloux B, Lu H, Campos-Xavier B, Superti-Furga A, Hauschild M, Bouthors T, Tran C
BMC Endocr Disord. 2021 Aug 21;21(1):172
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
Royer-Bertrand B, Cisarova K, Niel Bütschi F, Foletti G, Guinchat V, Tran C, Superti-Furga A, Good JM
Am J Med Genet A. 2021 Aug;185(8):2602-2606
The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects.
Tran C, Turolla L, Ballhausen D, Buros SC, Teav T, Gallart-Ayala H, Ivanisevic J, Faouzi M, Lefeber DJ, Ivanovski I, Giangiobbe S, Caraffi SG, Garavelli L, Superti-Furga A
Mol Genet Metab Rep. 2021 Sep;28:100777
Effect of a high fructose diet on metabolic parameters in carriers for hereditary fructose intolerance.
Debray FG, Seyssel K, Fadeur M, Tappy L, Paquot N, Tran C
Clin Nutr. 2021 Jun;40(6):4246-4254
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Atallah I, Quinodoz M, Campos-Xavier B, Peter VG, Fouriki A, Bonvin C, Bottani A, Kumps C, Angelini F, Bellutti Enders F, Christen-Zaech S, Rizzi M, Renella R, Beck-Popovic M, Poloni C, Frossard V, Blouin JL, Rivolta C, Riccio O, Candotti F, Hofer M, Unge
Clin Genet. 2021 Jun;99(6):780-788
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.
Good JM, Atallah I, Castro Jimenez M, Benninger D, Kuntzer T, Superti-Furga A, Tran C
Genes (Basel). 2021 May 6;12(5)
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M, E-HOD consortium
J Inherit Metab Dis. 2021 May;44(3):677-692
Classical homocystinuria, is it safe to exercise?
Tankeu AT, Van Winckel G, Campos-Xavier B, Braissant O, Pedro R, Superti-Furga A, Amati F, Tran C
Mol Genet Metab Rep. 2021 Jun;27:100746
Spinal cerebrotendinous xanthomatosis: A case report and literature review.
Atallah I, Millán DS, Benoît W, Campos-Xavier B, Superti-Furga A, Tran C
Mol Genet Metab Rep. 2021 Mar;26:100719
Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.
Botto LD, Meeths M, Campos-Xavier B, Bergamaschi R, Mazzanti L, Scarano E, Finocchi A, Cancrini C, Zirn B, Kühnle I, Kramm CM, Alanay Y, Jones WD, Irving M, Sabir A, Henter JI, Borgström B, Nordgren A, Hammarsjö A, Putti C, Mozzato C, Zuccarello D, Nishimura G, Bonafè L, Grigelioniene G, Unger S, Superti-Furga A
Am J Med Genet A. 2021 Feb;185(2):517-527
Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
Kumps C, Niel Bütschi F, Rapin B, Baud D, Pescia G, Robyr D, Superti-Furga A, Unger S
J Hum Genet. 2020 Nov;65(11):1035-1038
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy.
Van Winckel G, Ballhausen D, Wolf B, Procter M, Mao R, Burda P, Strambo D, Kuntzer T, Tran C
Front Neurol. 2020;11:516799
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.
Gariani K, Nascimento M, Superti-Furga A, Tran C
Orphanet J Rare Dis. 2020 Aug 18;15(1):210
The impact of an audience response system on a summative assessment, a controlled field study.
Schmidt T, Gazou A, Rieß A, Rieß O, Grundmann-Hauser K, Falb R, Schadeck M, Heinrich T, Abeditashi M, Schmidt J, Mau-Holzmann UA, Schnabel KP
BMC Med Educ. 2020 Jul 13;20(1):218
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutation.
Härter B, Benedicenti F, Karall D, Lausch E, Schweigmann G, Stanzial F, Superti-Furga A, Scholl-Bürgi S
Mol Genet Genomic Med. 2020 Jun;8(6):e1203
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.
Kumps C, Campos-Xavier B, Hilhorst-Hofstee Y, Marcelis C, Kraenzlin M, Fleischer N, Unger S, Superti-Furga A
Genes (Basel). 2020 Apr 14;11(4)
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B
Genet Med. 2019 Dec;21(12):2734-2743
[Alagille Syndrome].
Wakim El-Khoury J, Venetz JP, Rutz T, Sciarra A, Unger S, Sempoux C, Moradpour D, Fraga M
Rev Med Suisse. 2019 Aug 28;15(660):1506-1510
Cellular circadian period length inversely correlates with HbA(1c) levels in individuals with type 2 diabetes.
Sinturel F, Makhlouf AM, Meyer P, Tran C, Pataky Z, Golay A, Rey G, Howald C, Dermitzakis ET, Pichard C, Philippe J, Brown SA, Dibner C
Diabetologia. 2019 Aug;62(8):1453-1462
Education and training in adult metabolic medicine: Results of an international survey.
Sechi A, Fabbro E, Langeveld M, Tullio A, Lachmann R, Mochel F, SSIEM Adult Physicians Metabolic Group
JIMD Rep. 2019 Sep;49(1):63-69
[Diabetes, cancer and obesity : unequivocal association].
Tran C
Rev Med Suisse. 2019 May 29;15(653):1112-1116
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C
Ann Clin Transl Neurol. 2019 Jun;6(6):1072-1080
The natural history of classic galactosemia: lessons from the GalNet registry.
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langend
Orphanet J Rare Dis. 2019 Apr 27;14(1):86
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual.
Voinea C, Gonzalez Rodriguez E, Beigelman-Aubry C, Leroy V, Aubry-Rozier B, Campos-Xavier B, Ballhausen D, Lazor R, Barbey F, Bonafé L, Superti-Furga A, Tran C
J Bone Miner Metab. 2019 Mar;37(2):378-383
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R,
J Inherit Metab Dis. 2019 Mar;42(2):333-352
[Thiamine-responsive megaloblastic anemia or Rogers syndrome: A literature review].
Lu H, Lu H, Vaucher J, Tran C, Vollenweider P, Castioni J
Rev Med Interne. 2019 Jan;40(1):20-27
Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.
Vuillaume ML, Moizard MP, Rossignol S, Cottereau E, Vonwill S, Alessandri JL, Busa T, Colin E, Gérard M, Giuliano F, Lambert L, Lefevre M, Kotecha U, Nampoothiri S, Netchine I, Raynaud M, Brioude F, Toutain A
Hum Mutat. 2018 Dec;39(12):2110-2112
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
De Bernardi ML, Ivanovski I, Caraffi SG, Maini I, Street ME, Bayat A, Zollino M, Lepri FR, Gnazzo M, Errichiello E, Superti-Furga A, Garavelli L
Am J Med Genet A. 2018 Sep;176(9):1991-1995
Multisociety Consensus Quality Improvement Revised Consensus Statement for Endovascular Therapy of Acute Ischemic Stroke.
From the American Association of Neurological Surgeons (AANS), American Society of Neuroradiology (ASNR), Cardiovascular and Interventional Radiology Society of Europe (CIRSE), Canadian Interventional Radiology Association (CIRA), Congress of Neurological
Int J Stroke. 2018 Aug;13(6):612-632
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management.
Tran C, Bonafé L, Nuoffer JM, Rieger J, Berger MM
Clin Nutr. 2018 Aug;37(4):1114-1120
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
Debray FG, Damjanovic K, Rosset R, Mittaz-Crettol L, Roux C, Braissant O, Barbey F, Bonafé L, De Bandt JP, Tappy L, Paquot N, Tran C
Am J Clin Nutr. 2018 Aug 1;108(2):292-299
A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family.
Maroofian R, Murdocca M, Rezaei-Delui H, Nekooei A, Mojarad M, Sangiuolo F, Novelli G, Superti-Furga A, D'Apice MR
Clin Dysmorphol. 2018 Jul;27(3):88-90
Complex cranio-vertebral malformation: disruption sequence or iniencephaly?
Pollazzon M, Rosato S, Ivanovski I, Gelmini C, Bertani G, Pascarella R, Napoli M, Garavelli L, Unger S, Superti-Furga A
Clin Dysmorphol. 2018 Jul;27(3):105-108
[Statin-associated muscle symptoms : Current management in 2018].
Kosinski C, Tran C, Kuntzer T, Rodondi N, Collet TH
Rev Med Suisse. 2018 Feb 28;14(596):462-469
Ascending aortic remodelling in Fabry disease after long-term enzyme replacement therapy.
Monney P, Qanadli SD, Hajdu S, Tran C, Schwitter J, Dormond O, Barbey F
Swiss Med Wkly. 2017;147:w14517
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balcı MC, Berg V, Çoker M, Das AM, Demirkol M, Derks TGJ, Gökçay G, Uçar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sa
Mol Genet Metab. 2017 Sep;122(1-2):67-75
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.
Tran C, Patel J, Stacy H, Mamak EG, Faghfoury H, Raiman J, Clarke JTR, Blaser S, Mercimek-Mahmutoglu S
Eur J Paediatr Neurol. 2017 Jul;21(4):600-609
Inborn Errors of Fructose Metabolism. What Can We Learn from Them?
Tran C
Nutrients. 2017 Apr 3;9(4)
[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].
Tran C, Serratrice J, Nuoffer JM, Schaller A, Favrat B, Barbey F, Lobrinus JA, Kern I, Kuntzer T, Ballhausen D
Rev Med Suisse. 2017 Jan 18;13(546):159-163
Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.
Tran C, Barbey F, Lazor R, Bonafé L
Respiration. 2017;94(1):2-13
Systemic availability of guanidinoacetate affects GABAA receptor function and seizure threshold in GAMT deficient mice.
Schulze A, Tran C, Levandovskiy V, Patel V, Cortez MA
Amino Acids. 2016 Aug;48(8):2041-7
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM
Eur J Pediatr. 2016 Apr;175(4):517-25
[Inaugural diabetes].
Abetel G, Tran C, Zanchi A
Rev Med Suisse. 2015 Dec 9;11(498):2346-8
Hyperinsulinemic hypoglycemia: think of hyperinsulinism/hyperammonemia (HI/HA) syndrome caused by mutations in the GLUD1 gene.
Tran C, Konstantopoulou V, Mecjia M, Perlman K, Mercimek-Mahmutoglu S, Kronick JB
J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):873-6
[Artificial sweeteners and diabetes: friends or foes?].
Tran C, Jornayvaz FR
Rev Med Suisse. 2015 Jun 3;11(477):1246-9
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.
Klinke G, Rohrbach M, Giugliani R, Burda P, Baumgartner MR, Tran C, Gautschi M, Mathis D, Hersberger M
Clin Biochem. 2015 Jun;48(9):596-602
Acute painful diabetic neuropathy: an uncommon, remittent type of acute distal small fibre neuropathy.
Tran C, Philippe J, Ochsner F, Kuntzer T, Truffert A
Swiss Med Wkly. 2015;145:w14131
[Inborn errors of metabolism: transition from childhood to adulthood].
Tran C, Barbey F, Pitteloud N, Philippe J, Kern I, Bonafé L
Rev Med Suisse. 2015 Feb 18;11(462):445-9
Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.
Tran C, Yazdanpanah M, Kyriakopoulou L, Levandovskiy V, Zahid H, Naufer A, Isbrandt D, Schulze A
Clin Chim Acta. 2014 Sep 25;436:160-8
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.
Tran C, Hewson S, Steinberg SJ, Mercimek-Mahmutoglu S
Pediatr Neurol. 2014 Aug;51(2):262-5
Hypothermia is a frequent sign of severe hypoglycaemia in patients with diabetes.
Tran C, Gariani K, Herrmann FR, Juan L, Philippe J, Rutschmann OT, Vischer UM
Diabetes Metab. 2012 Oct;38(4):370-2
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
Yoshinaga H, Sakoda S, Good JM, Takahashi MP, Kubota T, Arikawa-Hirasawa E, Nakata T, Ohno K, Kitamura T, Kobayashi K, Ohtsuka Y
J Neurol Sci. 2012 Apr 15;315(1-2):15-9
[Sucrose, glucose, fructose consumption: what are the impacts on metabolic health?].
Tran C, Tappy L
Rev Med Suisse. 2012 Mar 7;8(331):513, 515-8
[How to prevent severe hypoglycemia in older patients with type 2 diabetes].
Köhler Ballan B, Tran C, Perrenoud L, Vischer UM
Rev Med Suisse. 2011 Nov 9;7(316):2166-9
Contributions of fat and protein to the incretin effect of a mixed meal.
Carrel G, Egli L, Tran C, Schneiter P, Giusti V, D'Alessio D, Tappy L
Am J Clin Nutr. 2011 Oct;94(4):997-1003
[Glycated hemoglobin: a new screening tool?].
Gariani K, Tran C, Philippe J
Rev Med Suisse. 2011 Jun 8;7(298):1238, 1240-2
[Management of gestational diabetes: current knowledge and future perspectives].
Tran C, Boulvain M, Philippe J
Rev Med Suisse. 2011 Jun 8;7(298):1250-2, 1254
Fructose and metabolic diseases: new findings, new questions.
Tappy L, Lê KA, Tran C, Paquot N
Nutrition. 2010 Nov-Dec;26(11-12):1044-9
Sex differences in lipid and glucose kinetics after ingestion of an acute oral fructose load.
Tran C, Jacot-Descombes D, Lecoultre V, Fielding BA, Carrel G, Lê KA, Schneiter P, Bortolotti M, Frayn KN, Tappy L
Br J Nutr. 2010 Oct;104(8):1139-47
[Insulin and cancer: myth or reality?].
Tran C, Gariani K, Philippe J
Rev Med Suisse. 2010 Jun 9;6(252):1188-90, 1192
[Diabetes and cancer: an injurious association].
Gariani K, Tran C, Philippe J
Rev Med Suisse. 2010 Jun 9;6(252):1193-4, 1196-8
Training in hypoxia fails to further enhance endurance performance and lactate clearance in well-trained men and impairs glucose metabolism during prolonged exercise.
Lecoultre V, Boss A, Tappy L, Borrani F, Tran C, Schneiter P, Schutz Y
Exp Physiol. 2010 Feb;95(2):315-30
Markedly blunted metabolic effects of fructose in healthy young female subjects compared with male subjects.
Couchepin C, Lê KA, Bortolotti M, da Encarnaçao JA, Oboni JB, Tran C, Schneiter P, Tappy L
Diabetes Care. 2008 Jun;31(6):1254-6
[Pressure ulcers and undernutrition--screening and assessment of nutritional status].
Tran C, Roulet M, Guex E, Coti Bertrand P
Praxis (Bern 1994). 2008 Mar 5;97(5):261-4
MMP-13 and p53 in the progression of malignant peripheral nerve sheath tumors.
Holtkamp N, Atallah I, Okuducu AF, Mucha J, Hartmann C, Mautner VF, Friedrich RE, Mawrin C, von Deimling A
Neoplasia. 2007 Aug;9(8):671-7
Candida dubliniensis in recurrent polymicrobial tricuspid endocarditis.
Tran C, Cometta A, Letovanec I, Jaton K, Wenger A, Ruchat P, Jaussi A
Echocardiography. 2007 Aug;24(7):756-9
Neuromyelitis optica following CMV primo-infection.
Tran C, Du Pasquier RA, Cavassini M, Guex-Crosier Y, Meuli R, Ciuffreda D, Waeber G
J Intern Med. 2007 May;261(5):500-3
Pdgfr-alpha in 1p/19q LOH oligodendrogliomas.
Hartmann C, Xu X, Bartels G, Holtkamp N, Gonzales IA, Tallen G, von Deimling A
Int J Cancer. 2004 Dec 20;112(6):1081-2
Subclassification of nerve sheath tumors by gene expression profiling.
Holtkamp N, Reuss DE, Atallah I, Kuban RJ, Hartmann C, Mautner VF, Frahm S, Friedrich RE, Algermissen B, Pham VA, Prietz S, Rosenbaum T, Estevez-Schwarz L, von Deimling A
Brain Pathol. 2004 Jul;14(3):258-64
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