Works matching AU Gallati, Sabina

Results: 54

Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 11, p. 3318, doi. 10.1002/ajmg.a.62961

By:

Lukas, Meyer‐Landolt;
Harald, Gaspar;
Sanz, Javier;
Trippel, Mafalda;
Sabina, Gallati;
Jochen, Rössler

Publication type:

Article

Compound‐heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy.

Published in:

Epilepsia (Series 4), 2022, v. 63, n. 10, p. e132, doi. 10.1111/epi.17394

By:

Strehlow, Vincent;
Rieubland, Claudine;
Gallati, Sabina;
Kim, Sukhan;
Myers, Scott J.;
Peterson, Vincent;
Ramsey, Amy J.;
Teuscher, Daniel D.;
Traynelis, Stephen F.;
Lemke, Johannes R.

Publication type:

Article

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

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2128, doi. 10.1111/j.1528-1167.2012.03676.x

By:

Goeggel Simonetti, Barbara;
Rieubland, Claudine;
Courage, Carolina;
Strozzi, Susi;
Tschumi, Sibylle;
Gallati, Sabina;
Lemke, Johannes R.

Publication type:

Article

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

Published in:

Epilepsia (Series 4), 2012, v. 53, n. 8, p. 1387, doi. 10.1111/j.1528-1167.2012.03516.x

By:

Lemke, Johannes R.;
Riesch, Erik;
Scheurenbrand, Tim;
Schubach, Max;
Wilhelm, Christian;
Steiner, Isabelle;
Hansen, Jörg;
Courage, Carolina;
Gallati, Sabina;
Bürki, Sarah;
Strozzi, Susi;
Simonetti, Barbara Goeggel;
Grunt, Sebastian;
Steinlin, Maja;
Alber, Michael;
Wolff, Markus;
Klopstock, Thomas;
Prott, Eva C.;
Lorenz, Rüdiger;
Spaich, Christiane

Publication type:

Article

Quantitative 1-Step DNA Methylation Analysis with Native Genomic DNA as Template.

Published in:

Clinical Chemistry, 2010, v. 56, n. 7, p. 1098, doi. 10.1373/clinchem.2009.142828

By:

Kanel, Thomas von;
Gerber, Dominik;
Schaller, André;
Baumer, Alessandra;
Wey, Eva;
Jackson, Christopher B.;
Gisler, Franziska M.;
Heinimann, Karl;
Gallati, Sabina

Publication type:

Article

Rapid typing of Moraxella catarrhalis subpopulations based on outer membrane proteins using mass spectrometry.

Published in:

Proteomics, 2006, v. 6, n. 1, p. 172, doi. 10.1002/pmic.200500086

By:

André Schaller;
Rolf Troller;
Daniel Molina;
Sabina Gallati;
Christoph Aebi;
Patricia Stutzmann Meier

Publication type:

Article

Overlapping sense and antisense transcription units in Trypanosoma brucei.

Published in:

Molecular Microbiology, 2001, v. 40, n. 4, p. 869, doi. 10.1046/j.1365-2958.2001.02426.x

By:

Liniger, Matthias;
Bodenmüller, Kurt;
Pays, Etienne;
Gallati, Sabina;
Roditi, Isabel

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57

By:

von Kanel, Thomas;
Stanke, Frauke;
Weber, Melanie;
Schaller, Andre;
Racine, Julien;
Kraemer, Richard;
Chanson, Marc;
Tümmler, Burkhard;
Gallati, Sabina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 4, p. 397, doi. 10.1038/ejhg.2012.181

By:

Gisler, Franziska M;
von Kanel, Thomas;
Kraemer, Richard;
Schaller, André;
Gallati, Sabina

Publication type:

Article

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

Published in:

2011

By:

Hurst, Jane A.;
Jenkins, Dagan;
Vasudevan, Pradeep C.;
Kirchhoff, Maria;
Skovby, Flemming;
Rieubland, Claudine;
Gallati, Sabina;
Rittinger, Olaf;
Kroisel, Peter M.;
Johnson, David;
Biesecker, Leslie G.;
Wilkie, Andrew OM

Publication type:

Case Study

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

Published in:

European Journal of Human Genetics, 2010, v. 18, n. 2, p. 212, doi. 10.1038/ejhg.2009.140

By:

Sanz, Javier;
von Känel, Thomas;
Schneider, Mircea;
Steiner, Bernhard;
Schaller, André;
Gallati, Sabina

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2007, v. 15, n. 1, p. 53, doi. 10.1038/sj.ejhg.5201725

By:

Schaller, André;
Von Känel, Thomas;
Gehr, Benedikt;
Sanz, Javier;
Gallati, Sabina

Publication type:

Article

Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 121, doi. 10.1038/sj.ejhg.5201094

By:

Kaiser, Frank J.;
Brega, Paola;
Raff, Michael L.;
Byers, Peter H.;
Gallati, Sabina;
Kay, Teresa Taylor;
de Almeida, Salomé;
Horsthemke, Bernhard;
Lüdecke, Hermann-Josef

Publication type:

Article

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 5, p. 590, doi. 10.1038/sj.ejhg.5200338

By:

Liechti-Gallati, Sabina;
Schneider, Vreni;
Neeser, Dieter;
Kraemer, Richard

Publication type:

Article

Genomic organization of the MTM1 gene implicated in X-linked myotubular myopathy.

Published in:

European Journal of Human Genetics, 1998, v. 6, n. 4, p. 325, doi. 10.1038/sj.ejhg.5200189

By:

Laporte, Jocelyn;
Guiraud-Chaumeil, Christophe;
Tanner, Stephan M;
Blondeau, François;
Hu, Ling-Jia;
Vicaire, Serge;
Liechti-Gallati, Sabina;
Mandel, Jean-Louis

Publication type:

Article

Early Detection of Lung Disease and Its Association with the Nutritional Status, Genetic Background and Life Events in Patients with Cystic Fibrosis.

Published in:

Respiration, 2000, v. 67, n. 5, p. 477, doi. 10.1159/000067458

By:

Kraemer, Richard;
Aebi, Christoph;
Casaulta Aebischer, Carmen;
Gallati, Sabina

Publication type:

Article

Mitochondrial Encephalopathy with CADASIL-Like MRI.

Published in:

European Neurology, 2007, v. 58, n. 3, p. 185, doi. 10.1159/000104723

By:

Akhvlediani, Tamar;
Sandor, Peter S.;
Henning, Anke;
Schaller, André;
Jauslin, Marco;
Gallati, Sabina;
Boesiger, Peter;
Jung, Hans H.

Publication type:

Article

One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland.

Published in:

2013

By:

Rueegg, Corina S.;
Kuehni, Claudia E.;
Gallati, Sabina;
Baumgartner, Matthias;
Torresani, Toni;
Barben, Juerg;
Abholz, Heinz-Harald;
Barben, Jürg

Publication type:

Letter to the Editor

One-Year Evaluation of a Neonatal Screening Program for Cystic Fibrosis in Switzerland.

Published in:

Deutsches Ärzteblatt International, 2013, v. 110, n. 20, p. 356, doi. 10.3238/arztebl.2013.0356

By:

Rueegg, Corina S.;
Kuehni, Claudia E.;
Gallati, Sabina;
Baumgartner, Matthias;
Torresani, Toni;
Barben, Juerg

Publication type:

Article

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

Published in:

Pediatric Pulmonology, 2019, v. 54, n. 3, p. 264, doi. 10.1002/ppul.24227

By:

Rueegg, Corina S.;
Kuehni, Claudia E.;
Gallati, Sabina;
Jurca, Maja;
Jung, Andreas;
Casaulta, Carmen;
Barben, Juerg

Publication type:

Article

Mutations in the MTM1 Gene Implicated in X-Linked Myotubular Myopathy.

Published in:

Human Molecular Genetics, 1997, v. 6, n. 9, p. 1505, doi. 10.1093/hmg/6.9.1505

By:

Laporte, Jocelyn;
Guiraud-Chaumeil, Christophe;
Vincent, Marie-Claire;
Mandel, Jean-Louis;
Tanner, Stephan M.;
Liechti-Gallati, Sabina;
Wallgren-Pettersson, Carina;
Dahl, Niklas;
Kress, Wolfram;
Bolhuis, Pieter A.;
Fardeau, Michel;
Samson, Françoise;
Bertini, Enrico

Publication type:

Article

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

Published in:

Application of Clinical Genetics, 2014, v. 7, p. 133, doi. 10.2147/TACG.S18675

By:

Gallati, Sabina

Publication type:

Article

Cystic fibrosis mutations and immotile cilia syndrome.

Published in:

Clinical Genetics, 1995, v. 47, n. 6, p. 328, doi. 10.1111/j.1399-0004.1995.tb03975.x

By:

Liechti-Gallati, Sabina;
Kraemer, Richard

Publication type:

Article

Sodium Pump Reduction Correlates with Aortic Clamp Time in Pediatric Heart Surgery.

Published in:

Experimental Biology & Medicine, 2006, v. 231, n. 8, p. 1300, doi. 10.1177/153537020623100803

By:

Pavlovic, Mladen;
Schaller, André;
Ammann, Roland A.;
Pfammatter, Jean-Pierre;
Berdat, Pascal;
Carrel, Thierry;
Gallati, Sabina

Publication type:

Article

Gender Modulates the Expression of Calcium-Regulating Proteins in Pediatric Atrial Myocardium.

Published in:

Experimental Biology & Medicine, 2005, v. 230, n. 11, p. 853, doi. 10.1177/153537020523001110

By:

Pavlovic, Mladen;
Schaller, André;
Steiner, Bernhard;
Berdat, Pascal;
Carrel, Thierry;
Pfammatter, Jean-Pierre;
Ammann, Roland A.;
Gallati, Sabina

Publication type:

Article

Reduced Longevity in Untreated Patients with Isolated Growth Hormone Deficiency.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 8, p. 3664, doi. 10.1210/jc.2002-021938

By:

BESSON, AMÉLIE;
SALEMI, SOUZAN;
GALLATI, SABINA;
JENAL, ARTHUR;
HORN, RUDOLF;
MULLIS, PIA S.;
MULLIS, PRIMUS E.

Publication type:

Article

New Autosomal Recessive Mutation of the TSH-β Subunit Gene Causing Central Isolated Hypothyroidism.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 9, p. 4468, doi. 10.1210/jcem.86.9.7876

By:

VUISSOZ, JEAN-MARC;
DELADOËY, JOHNNY;
BUYUKGEBIZ, ATILLA;
CEMEROGLU, PINAR;
GEX, GRÉGOIRE;
GALLATI, SABINA;
MULLIS, PRIMUS E.

Publication type:

Article

Effect of Allergic Bronchopulmonary Aspergillosis on Lung Function in Children with Cystic Fibrosis.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2006, v. 174, n. 11, p. 1211, doi. 10.1164/rccm.200603-423OC

By:

Kraemer, Richard;
Deloséa, Natascha;
Ballinari, Pietro;
Gallati, Sabina;
Crameri, Reto

Publication type:

Article

Ventilation Inhomogeneities in Patients with Cystic Fibrosis: Inappropriate Reference Data and Errors?

Published in:

American Journal of Respiratory & Critical Care Medicine, 2005, v. 172, n. 5, p. 645, doi. 10.1164/ajrccm.172.5.955

By:

KRAEMER, RICHARD;
AMMANN, ROLAND A.;
GALLATI, SABINA

Publication type:

Article

Ventilation Inhomogeneities in Relation to Standard Lung Function in Patients with Cystic Fibrosis.

Published in:

American Journal of Respiratory & Critical Care Medicine, 2005, v. 171, n. 4, p. 371, doi. 10.1164/rccm.200407-948OC

By:

Kraemer, Richard;
Blum, Andrea;
Schibler, Andreas;
Ammann, Roland A.;
Gallati, Sabina

Publication type:

Article

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR Alleles.

Published in:

Human Mutation, 2004, v. 24, n. 2, p. 120, doi. 10.1002/humu.20064

By:

Steiner, Bernhard;
Truninger, Kaspar;
Sanz, Javier;
Schaller, André;
Gallati, Sabina

Publication type:

Article

Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 385, doi. 10.1002/humu.20007

By:

Joncourt, Franziska;
Neuhaus, Barbara;
Jostarndt-Foegen, Kristin;
Kleinle, Stephanie;
Steiner, Bernhard;
Gallati, Sabina

Publication type:

Article

MTM1 mutations in X-linked myotubular myopathy.

Published in:

Human Mutation, 2000, v. 15, n. 5, p. 393, doi. 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R

By:

Laporte, Jocelyn;
Biancalana, Valérie;
Tanner, Stephan M.;
Kress, Wolfram;
Schneider, Vreni;
Wallgren-Pettersson, Carina;
Herger, Franziska;
Buj-Bello, Anna;
Blondeau, François;
Liechti-Gallati, Sabina;
Mandel, Jean-Louis

Publication type:

Article

Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.

Published in:

Human Mutation, 1998, v. 11, n. 1, p. 62, doi. 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X

By:

Tanner, Stephan M.;
Laporte, Jocelyn;
Guiraud-Chaumeil, Christophe;
Liechti-Gallati, Sabina

Publication type:

Article

Ornithine transcarbamylase deficiency: Ten new mutations and high proportion of de novo mutations in heterozygous females.

Published in:

Human Mutation, 1997, v. 9, n. 5, p. 409, doi. 10.1002/(SICI)1098-1004(1997)9:5<409::AID-HUMU5>3.0.CO;2-Z

By:

Leibundgut, Elisabeth Oppliger;
Liechti-Gallati, Sabina;
Colombo, Jean-Pierre;
Wermuth, Bendicht

Publication type:

Article

Ornithine transcarbamylase deficiency: Characterization of gene mutations and polymorphisms.

Published in:

Human Mutation, 1996, v. 8, n. 4, p. 333, doi. 10.1002/(SICI)1098-1004(1996)8:4<333::AID-HUMU6>3.0.CO;2-8

By:

Leibundgut, Elisabeth Oppliger;
Wermuth, Bendicht;
Colombo, Jean-Pierre;
Liechti-Gallati, Sabina

Publication type:

Article

Chronic metabolic alkalosis: not uncommon in young children with severe cystic fibrosis.

Published in:

1995

By:

Pedroli, Gianluca;
Liechti-Gallati, Sabina;
Mauri, Simonetta;
Birrer, Peter;
Kraemer, Richard;
Foletti-Jäggi, Claudia;
Bianchetti, Mario G.;
Pedroli, G;
Liechti-Gallati, S;
Mauri, S;
Birrer, P;
Kraemer, R;
Foletti-Jäggi, C;
Bianchetti, M G

Publication type:

journal article

Primary GH insensitivity `(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.

Published in:

European Journal of Endocrinology, 2004, v. 150, n. 5, p. 0635

By:

Amelie Besson;
Souzan Salemi;
Andree Eble;
Fransiska Joncourt;
Sabina Gallati;
Alexander A L Jorge;
Primus E Mullis

Publication type:

Article

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

Published in:

Human Genetics, 2003, v. 112, n. 2, p. 135, doi. 10.1007/s00439-002-0869-1

By:

Biancalana, Valérie;
Caron, Olivier;
Gallati, Sabina;
Baas, Frank;
Kress, Wolfram;
Novelli, Giuseppe;
D'Apice, Maria;
Lagier-Tourenne, Clotilde;
Buj-Bello, Anna;
Romero, Norma B.;
Mandel, Jean-Louis

Publication type:

Article

Functional characterization of the new human GABA<sub>A</sub> receptor mutation β3(R192H).

Published in:

Human Genetics, 2002, v. 111, n. 2, p. 154, doi. 10.1007/s00439-002-0766-7

By:

Buhr, Andreas;
Bianchi, Matt T.;
Baur, Roland;
Courtet, Philippe;
Pignay, Virginie;
Boulenger, Jean P.;
Gallati, Sabina;
Hinkle, David J.;
Macdonald, Robert L.;
Sigel, Erwin

Publication type:

Article

Assessment of functional diversities in patients with Asthma, COPD, Asthma-COPD overlap, and Cystic Fibrosis (CF).

Published in:

PLoS ONE, 2024, v. 19, n. 2, p. 1, doi. 10.1371/journal.pone.0292270

By:

Kraemer, Richard;
Baty, Florent;
Smith, Hans-Jürgen;
Minder, Stefan;
Gallati, Sabina;
Brutsche, Martin H.;
Matthys, Heinrich

Publication type:

Article

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

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 1, p. 225, doi. 10.1002/ajmg.a.37986

By:

Courage, Carolina;
Jackson, Christopher B.;
Hahn, Dagmar;
Euro, Liliya;
Nuoffer, Jean‐Marc;
Gallati, Sabina;
Schaller, André

Publication type:

Article

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

Published in:

Frontiers in Behavioral Neuroscience, 2018, p. N.PAG, doi. 10.3389/fnbeh.2018.00125

By:

Frey, Stefan;
Eichler, Anna;
Stonawski, Valeska;
Kriebel, Jennifer;
Wahl, Simone;
Gallati, Sabina;
Goecke, Tamme W.;
Fasching, Peter A.;
Beckmann, Matthias W.;
Kratz, Oliver;
Moll, Gunther H.;
Heinrich, Hartmut;
Kornhuber, Johannes;
Golub, Yulia

Publication type:

Article

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

Published in:

BMC Neurology, 2011, v. 11, n. 1, p. 1, doi. 10.1186/1471-2377-11-4

By:

Schaller, André;
Hahn, Dagmar;
Jackson, Christopher B.;
Kern, Ilse;
Chardot, Christophe;
Belli, Dominique C.;
Gallati, Sabina;
Nuoffer, Jean-Marc

Publication type:

Article

Identification and selection of healthy spermatozoa in heterozygous carriers of the Phe508del-variant of the CFTR-gene in assisted reproduction.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-05925-1

By:

De Geyter, Julie;
Gallati-Kraemer, Sabina;
Zhang, Hong;
De Geyter, Christian

Publication type:

Article

Point Mutation tRNA<sup>Ser(UCN)</sup> in a Child With Hearing Loss and Myoclonus Epilepsy.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 3, p. 253, doi. 10.2310/7010.2006.00047

By:

Ramelli, Gian Paolo;
Gallati, Sabina;
Weis, Joachim;
Krähenbühl, Stephan;
Burgunder, Jean-Marc

Publication type:

Article

Progression of pulmonary hyperinflation and trapped gas associated with genetic and environmental factors in children with cystic fibrosis.

Published in:

Respiratory Research, 2006, v. 7, p. 138, doi. 10.1186/1465-9921-7-138

By:

Kraemer, Richard;
Baldwin, David N.;
Ammann, Roland A.;
Frey, Urs;
Gallati, Sabina

Publication type:

Article

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

Published in:

Human Mutation, 2012, v. 33, n. 2, p. 456, doi. 10.1002/humu.22006

By:

Steiner, Bernhard;
Rosendahl, Jonas;
Witt, Heiko;
Teich, Niels;
Keim, Volker;
Schulz, Hans-Ulrich;
Pfützer, Roland;
Löhr, Matthias;
Gress, Thomas M.;
Nickel, Renate;
Landt, Olfert;
Koudova, Monika;
Macek Jr, Milan;
Farre, Antoni;
Casals, Teresa;
Desax, Marie-Claire;
Gallati, Sabina;
Gomez-Lira, Macarena;
Audrezet, Marie Pierre;
Férec, Claude

Publication type:

Article

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

Published in:

Human Mutation, 2011, v. 32, n. 8, p. 912, doi. 10.1002/humu.21511

By:

Steiner, Bernhard;
Rosendahl, Jonas;
Witt, Heiko;
Teich, Niels;
Keim, Volker;
Schulz, Hans-Ulrich;
Pfützer, Roland;
Lühr, Matthias;
Gress, Thomas M.;
Nickel, Renate;
Landt, Olfert;
Koudova, Monika;
Macek, Milan;
Farre, Antoni;
Casals, Teresa;
Desax, Marie-Claire;
Gallati, Sabina;
Gomez-Lira, Macarena;
Audrezet, Marie Pierre;
Férec, Claude

Publication type:

Article

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

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2009, v. 19, n. 5, p. 685, doi. 10.1016/j.rbmo.2009.09.002

By:

Gallati, Sabina;
Hess, Simone;
Galié-Wunder, Dorothea;
Berger-Menz, Elisabeth;
Böhlen, Dominik

Publication type:

Article