Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 86


Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns.

Rueegg CS, Kuehni CE, Gallati S, Jurca M, Jung A, Casaulta C, Barben J; Swiss Cystic Fibrosis Screening Group.

Pediatr Pulmonol. 2019 Mar;54(3):264-272. doi: 10.1002/ppul.24227. Epub 2019 Jan 4.


Prenatal Alcohol Exposure Is Associated With Adverse Cognitive Effects and Distinct Whole-Genome DNA Methylation Patterns in Primary School Children.

Frey S, Eichler A, Stonawski V, Kriebel J, Wahl S, Gallati S, Goecke TW, Fasching PA, Beckmann MW, Kratz O, Moll GH, Heinrich H, Kornhuber J, Golub Y.

Front Behav Neurosci. 2018 Jun 26;12:125. doi: 10.3389/fnbeh.2018.00125. eCollection 2018.


CFTR Genotype and Maximal Exercise Capacity in Cystic Fibrosis: A Cross-sectional Study.

Radtke T, Hebestreit H, Gallati S, Schneiderman JE, Braun J, Stevens D, Hulzebos EH, Takken T, Boas SR, Urquhart DS, Lands LC, Tejero S, Sovtic A, Dwyer T, Petrovic M, Harris RA, Karila C, Savi D, Usemann J, Mei-Zahav M, Hatziagorou E, Ratjen F, Kriemler S; CFTR-Exercise study group.

Ann Am Thorac Soc. 2018 Feb;15(2):209-216. doi: 10.1513/AnnalsATS.201707-570OC. Epub 2017 Nov 15.


Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

Bolognini R, Gerth-Kahlert C, Abegg M, Bartholdi D, Mathis N, Sturm V, Gallati S, Schaller A.

BMC Med Genet. 2017 Feb 28;18(1):22. doi: 10.1186/s12881-017-0383-x.


SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.

Courage C, Jackson CB, Hahn D, Euro L, Nuoffer JM, Gallati S, Schaller A.

Am J Med Genet A. 2017 Jan;173(1):225-230. doi: 10.1002/ajmg.a.37986. Epub 2016 Sep 28.


Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Suter AA, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, Kini U, Lapunzina P, Miny P, Sommerlund M, Suri M, Vaeth S, Vasudevan P, Gallati S.

Mol Genet Genomic Med. 2016 Feb 24;4(3):359-66. doi: 10.1002/mgg3.209. eCollection 2016 May.


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. doi: 10.1007/s00431-015-2661-y. Epub 2015 Nov 13.


The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers.

Dhayat NA, Schaller A, Albano G, Poindexter J, Griffith C, Pasch A, Gallati S, Vogt B, Moe OW, Fuster DG.

J Am Soc Nephrol. 2016 May;27(5):1544-54. doi: 10.1681/ASN.2015040367. Epub 2015 Oct 9.


De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium, Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR.

Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9.


Disease-modifying genes and monogenic disorders: experience in cystic fibrosis.

Gallati S.

Appl Clin Genet. 2014 Jul 10;7:133-46. doi: 10.2147/TACG.S18675. eCollection 2014. Review.


Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype.

Jackson CB, Neuwirth C, Hahn D, Nuoffer JM, Frank S, Gallati S, Schaller A.

Br J Ophthalmol. 2014 Oct;98(10):1453-9. doi: 10.1136/bjophthalmol-2014-305300. Epub 2014 Jul 17.


15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity.

Courage C, Houge G, Gallati S, Schjelderup J, Rieubland C.

Eur J Med Genet. 2014 Sep;57(9):520-3. doi: 10.1016/j.ejmg.2014.06.003. Epub 2014 Jun 13.


Heterologous expression from the human D-Loop in organello.

Jackson CB, Zbinden C, Gallati S, Schaller A.

Mitochondrion. 2014 Jul;17:67-75. doi: 10.1016/j.mito.2014.05.011. Epub 2014 Jun 6.


Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis.

Stickel F, Buch S, Zoller H, Hultcrantz R, Gallati S, Österreicher C, Finkenstedt A, Stadlmayr A, Aigner E, Sahinbegovic E, Sarrazin C, Schafmayer C, Braun F, Erhart W, Nothnagel M, Lerch MM, Mayerle J, Völzke H, Schaller A, Kratzer W, Boehm BO, Sipos B, D'Amato M, Torkvist L, Stal P, Arlt A, Franke A, Becker T, Krawczak M, Zwerina J, Berg T, Hinrichsen H, Krones E, Dejaco C, Strasser M, Datz C, Hampe J.

Hum Mol Genet. 2014 Jul 15;23(14):3883-90. doi: 10.1093/hmg/ddu076. Epub 2014 Feb 20.


Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Häberli A, Gallati S, Schaller A.

J Med Genet. 2014 Mar;51(3):170-5. doi: 10.1136/jmedgenet-2013-101932. Epub 2013 Dec 23.


One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland.

Rueegg CS, Kuehni CE, Gallati S, Baumgartner M, Torresani T, Barben J; Swiss CF Screening Task Force.

Dtsch Arztebl Int. 2013 May;110(20):356-63. doi: 10.3238/arztebl.2013.0356. Epub 2013 May 17.


Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.

Torresani T, Fingerhut R, Rueegg CS, Gallati S, Kuehni CE, Baumgartner MR, Barben J; Swiss CF Screening Group.

J Cyst Fibros. 2013 Dec;12(6):667-74. doi: 10.1016/j.jcf.2013.04.008. Epub 2013 May 24.


Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

von Kanel T, Stanke F, Weber M, Schaller A, Racine J, Kraemer R, Chanson M, Tümmler B, Gallati S.

Eur J Hum Genet. 2013 Dec;21(12):1462-6. doi: 10.1038/ejhg.2013.57. Epub 2013 Apr 10.


Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR.

Epilepsia. 2012 Dec;53(12):2128-34. doi: 10.1111/j.1528-1167.2012.03676.x. Epub 2012 Sep 27. Review.


Identification of SNPs in the cystic fibrosis interactome influencing pulmonary progression in cystic fibrosis.

Gisler FM, von Kanel T, Kraemer R, Schaller A, Gallati S.

Eur J Hum Genet. 2013 Apr;21(4):397-403. doi: 10.1038/ejhg.2012.181. Epub 2012 Aug 15.


Loss of insulin-induced activation of TRPM6 magnesium channels results in impaired glucose tolerance during pregnancy.

Nair AV, Hocher B, Verkaart S, van Zeeland F, Pfab T, Slowinski T, Chen YP, Schlingmann KP, Schaller A, Gallati S, Bindels RJ, Konrad M, Hoenderop JG.

Proc Natl Acad Sci U S A. 2012 Jul 10;109(28):11324-9. doi: 10.1073/pnas.1113811109. Epub 2012 Jun 25.


qPCR-based mitochondrial DNA quantification: influence of template DNA fragmentation on accuracy.

Jackson CB, Gallati S, Schaller A.

Biochem Biophys Res Commun. 2012 Jul 6;423(3):441-7. doi: 10.1016/j.bbrc.2012.05.121. Epub 2012 Jun 5.


Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S.

Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21.


Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.

Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T; SWISS CF SCREENING GROUP.

J Cyst Fibros. 2012 Jul;11(4):332-6. doi: 10.1016/j.jcf.2012.01.001. Epub 2012 Feb 1.


Detecting and resolving position-dependent temperature effects in real-time quantitative polymerase chain reaction.

von Kanel T, Gerber D, Wittwer CT, Hermann M, Gallati S.

Anal Biochem. 2011 Dec 15;419(2):161-7. doi: 10.1016/j.ab.2011.08.041. Epub 2011 Aug 27.


Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.

Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel HM, Schaller A, Gallati S, Conrad B.

Am J Med Genet A. 2011 Aug;155A(8):1964-8. doi: 10.1002/ajmg.a.33210. Epub 2011 Jul 7.


Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K.

Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Erratum in: Hum Mutat. 2012 Feb;33(2):456. Lühr, Matthias [corrected to Löhr, Matthias].


Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO.

Eur J Hum Genet. 2011 Jul;19(7):757-62. doi: 10.1038/ejhg.2011.13. Epub 2011 Feb 16.


Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia.

Schaller A, Desetty R, Hahn D, Jackson CB, Nuoffer JM, Gallati S, Levinger L.

Mitochondrion. 2011 May;11(3):488-96. doi: 10.1016/j.mito.2011.01.005. Epub 2011 Feb 1.


Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Schaller A, Hahn D, Jackson CB, Kern I, Chardot C, Belli DC, Gallati S, Nuoffer JM.

BMC Neurol. 2011 Jan 14;11:4. doi: 10.1186/1471-2377-11-4.


Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.

Wingeier K, Giger E, Strozzi S, Kreis R, Joncourt F, Conrad B, Gallati S, Steinlin M.

J Clin Neurosci. 2011 Jan;18(1):90-5. doi: 10.1016/j.jocn.2010.07.118. Epub 2010 Nov 24.


Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data.

Derichs N, Sanz J, Von Kanel T, Stolpe C, Zapf A, Tümmler B, Gallati S, Ballmann M.

Thorax. 2010 Jul;65(7):594-9. doi: 10.1136/thx.2009.125088.


Quantitative 1-step DNA methylation analysis with native genomic DNA as template.

von Kanel T, Gerber D, Schaller A, Baumer A, Wey E, Jackson CB, Gisler FM, Heinimann K, Gallati S.

Clin Chem. 2010 Jul;56(7):1098-106. doi: 10.1373/clinchem.2009.142828. Epub 2010 May 14.


Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners.

Gallati S, Hess S, Galié-Wunder D, Berger-Menz E, Böhlen D.

Reprod Biomed Online. 2009 Nov;19(5):685-94.


Long-term gas exchange characteristics as markers of deterioration in patients with cystic fibrosis.

Kraemer R, Latzin P, Pramana I, Ballinari P, Gallati S, Frey U.

Respir Res. 2009 Nov 12;10:106. doi: 10.1186/1465-9921-10-106.


The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.

Sanz J, von Känel T, Schneider M, Steiner B, Schaller A, Gallati S.

Eur J Hum Genet. 2010 Feb;18(2):212-7. doi: 10.1038/ejhg.2009.140. Epub 2009 Sep 2.


Ligation dependent allele specific quantification (LASQ) of CFTR cDNA on the LightCycler using MLPA hybridization probes.

Schneider M, von Känel T, Sanz J, Gallati S.

Clin Chim Acta. 2009 Apr;402(1-2):47-53. doi: 10.1016/j.cca.2008.12.017. Epub 2008 Dec 24.


Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.


Diversity of the basic defect of homozygous CFTR mutation genotypes in humans.

Stanke F, Ballmann M, Bronsveld I, Dörk T, Gallati S, Laabs U, Derichs N, Ritzka M, Posselt HG, Harms HK, Griese M, Blau H, Mastella G, Bijman J, Veeze H, Tümmler B.

J Med Genet. 2008 Jan;45(1):47-54. doi: 10.1136/jmg.2007.053561.


CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T, Kuwertz-Bröking E, Peco-Antic A, Tasic V, Dittrich K, Alshaya HO, von Vigier RO, Gallati S, Goodenough DA, Schaller A.

J Am Soc Nephrol. 2008 Jan;19(1):171-81. Epub 2007 Nov 14. No abstract available.


Mitochondrial encephalopathy with CADASIL-like MRI.

Akhvlediani T, Sandor PS, Henning A, Schaller A, Jauslin M, Gallati S, Boesiger P, Jung HH.

Eur Neurol. 2007;58(3):185-8. Epub 2007 Jul 2. No abstract available.


Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF.

Schneider M, Hirt C, Casaulta C, Barben J, Spinas R, Bühlmann U, Spalinger J, Schwizer B, Chevalier-Porst F, Gallati S.

Clin Genet. 2007 Jul;72(1):30-8.


Sample number and denaturation time are crucial for the accuracy of capillary-based LightCyclers.

von Kanel T, Adolf F, Schneider M, Sanz J, Gallati S.

Clin Chem. 2007 Jul;53(7):1392-4. No abstract available.


Maternal tobacco smoking and decreased leukocytes, including dendritic cells, in neonates.

Pachlopnik Schmid JM, Kuehni CE, Strippoli MP, Roiha HL, Pavlovic R, Latzin P, Gallati S, Kraemer R, Dahinden C, Frey U; Swiss Pediatric Respiratory Research Group.

Pediatr Res. 2007 Apr;61(4):462-6.


Functional expression of connexin30 and connexin31 in the polarized human airway epithelium.

Wiszniewski L, Sanz J, Scerri I, Gasparotto E, Dudez T, Lacroix JS, Suter S, Gallati S, Chanson M.

Differentiation. 2007 Jun;75(5):382-92. Epub 2007 Apr 11.


Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.

Iliev ME, Bodmer S, Gallati S, Lanz R, Sturmer J, Katsoulis K, Wolf S, Trittibach P, Sarra GM.

Eye (Lond). 2008 Jul;22(7):880-8. Epub 2007 Feb 16. Erratum in: Eye. 2008 Dec;22(12):1523.


Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

Schüpbach WM, Vadday KM, Schaller A, Brekenfeld C, Kappeler L, Benoist JF, Xuan-Huong CN, Burgunder JM, Seibold F, Gallati S, Mattle HP.

J Neurol. 2007 Feb;254(2):146-53. Epub 2007 Feb 9.


Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, Vitzthum H, Suzuki Y, Luk JM, Becker C, Schlingmann KP, Schmid M, Rodriguez-Soriano J, Ariceta G, Cano F, Enriquez R, Juppner H, Bakkaloglu SA, Hediger MA, Gallati S, Neuhauss SC, Nurnberg P, Weber S.

Am J Hum Genet. 2006 Nov;79(5):949-57. Epub 2006 Sep 19.


Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.

Schaller A, von Känel T, Gehr B, Sanz J, Gallati S.

Eur J Hum Genet. 2007 Jan;15(1):53-61. Epub 2006 Oct 4.

Supplemental Content

Loading ...
Support Center