Works by Witsch-Baumgartner, Martina

Results: 22

Human variome project country nodes: Documenting genetic information within a country.

Published in:

Human Mutation, 2012, v. 33, n. 11, p. 1513, doi. 10.1002/humu.22147

By:

Patrinos, George P.;
Smith, Timothy D.;
Howard, Heather;
Al-Mulla, Fahd;
Chouchane, Lotfi;
Hadjisavvas, Andreas;
Hamed, Sherifa A.;
Li, Xi-Tao;
Marafie, Makia;
Ramesar, Rajkumar S.;
Ramos, Feliciano J.;
de Ravel, Thomy;
El-Ruby, Mona O.;
Shrestha, Tilak Ram;
Sobrido, María-Jesús;
Tadmouri, Ghazi;
Witsch-Baumgartner, Martina;
Zilfalil, Bin Alwi;
Auerbach, Arleen D.;
Carpenter, Kevin

Publication type:

Article

Mutations in the human DHCR7 gene.

Published in:

Human Mutation, 2001, v. 17, n. 3, p. 172, doi. 10.1002/humu.2

By:

Witsch-Baumgartner, Martina;
Löffler, Judith;
Utermann, Gerd

Publication type:

Article

Retrospective identification of the first cord blood–transplanted severe aplastic anemia in a STAT1-associated chronic mucocutaneous candidiasis family: case report, review of literature and pathophysiologic background.

Published in:

Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1430938

By:

Fink, Franz-Martin;
Höpfl, Reinhard;
Witsch-Baumgartner, Martina;
Kropshofer, Gabriele;
Martin, Sabine;
Fink, Valentin;
Heeg, Maximilian;
Peters, Christina;
Zschocke, Johannes;
Haas, Oskar A.

Publication type:

Article

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern.

Published in:

Birth Defects Research, 2020, v. 112, n. 2, p. 175, doi. 10.1002/bdr2.1620

By:

Schoner, Katharina;
Witsch‐Baumgartner, Martina;
Behunova, Jana;
Petrovic, Robert;
Bald, Rainer;
Kircher, Susanne G.;
Ramaswamy, Annette;
Kluge, Britta;
Meyer‐Wittkopf, Matthias;
Schmitz, Ralf;
Fritz, Barbara;
Zschocke, Johannes;
Laccone, Franco;
Rehder, Helga

Publication type:

Article

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Published in:

Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154

By:

Nagy, Dóra;
Verheyen, Sarah;
Wigby, Kristen M.;
Borovikov, Artem;
Sharkov, Artem;
Slegesky, Valerie;
Larson, Austin;
Fagerberg, Christina;
Brasch-Andersen, Charlotte;
Kibæk, Maria;
Bader, Ingrid;
Hernan, Rebecca;
High, Frances A.;
Chung, Wendy K.;
Schieving, Jolanda H.;
Behunova, Jana;
Smogavec, Mateja;
Laccone, Franco;
Witsch-Baumgartner, Martina;
Zobel, Joachim

Publication type:

Article

Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.

Published in:

2016

By:

Rudnik-Schöneborn, Sabine;
Witsch-Baumgartner, Martina;
Zerres, Klaus

Publication type:

journal article

Molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome is reliable and efficient.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 9, p. 827, doi. 10.1002/pd.419

By:

Loeffler, Judith;
Utermann, Gerd;
Witsch-Baumgartner, Martina

Publication type:

Article

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.257

By:

Witsch-Baumgartner, Martina;
Touitou, Isabelle

Publication type:

Article

Birthday of a syndrome: 50 years anniversary of Smith-Lemli-Opitz Syndrome.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 3, p. 277, doi. 10.1038/ejhg.2014.87

By:

Witsch-Baumgartner, Martina;
Lanthaler, Barbara

Publication type:

Article

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 8, p. 1, doi. 10.1038/ejhg.2012.255

By:

Witsch-Baumgartner, Martina;
Sawyer, Hilary;
Haas, Dorothea

Publication type:

Article

Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 3, p. 286, doi. 10.1038/ejhg.2012.169

By:

Lanthaler, Barbara;
Steichen-Gersdorf, Elisabeth;
Kollerits, Barbara;
Zschocke, Johannes;
Witsch-Baumgartner, Martina

Publication type:

Article

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108

By:

Kamsteeg, Erik-Jan;
Kress, Wolfram;
Catalli, Claudio;
Hertz, Jens M;
Witsch-Baumgartner, Martina;
Buckley, Michael F;
van Engelen, Baziel G M;
Schwartz, Marianne;
Scheffer, Hans

Publication type:

Article

Array genotyping as diagnostic approach in medical genetics.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 9, p. 1, doi. 10.1002/mgg3.2016

By:

Witsch‐Baumgartner, Martina;
Schwaninger, Gunda;
Schnaiter, Simon;
Kollmann, Franziska;
Burkhard, Silja;
Gröbner, Rebekka;
Mühlegger, Beatrix;
Schamschula, Esther;
Kirchmeier, Peter;
Zschocke, Johannes

Publication type:

Article

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.

Published in:

European Journal of Haematology, 2023, v. 110, n. 3, p. 296, doi. 10.1111/ejh.13905

By:

Locher, Maurus;
Jukic, Emina;
Vogi, Verena;
Keller, Markus A.;
Kröll, Teresa;
Schwendinger, Simon;
Oberhuber, Klaus;
Verdorfer, Irmgard;
Mühlegger, Beatrix E.;
Witsch‐Baumgartner, Martina;
Nachbaur, David;
Willenbacher, Wolfgang;
Gunsilius, Eberhard;
Wolf, Dominik;
Zschocke, Johannes;
Steiner, Normann

Publication type:

Article

Clonal dynamics in a composite chronic lymphocytic leukemia and hairy cell leukemia‐variant.

Published in:

Genes, Chromosomes & Cancer, 2021, v. 60, n. 4, p. 287, doi. 10.1002/gcc.22925

By:

Locher, Maurus;
Jukic, Emina;
Bohn, Jan‐Paul;
Untergasser, Gerold;
Steurer, Michael;
Cramer, Christian Andreas;
Schwendinger, Simon;
Vogi, Verena;
Verdorfer, Irmgard;
Witsch‐Baumgartner, Martina;
Nachbaur, David;
Gunsilius, Eberhard;
Wolf, Dominik;
Zschocke, Johannes;
Steiner, Normann

Publication type:

Article

Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 9, p. 1257, doi. 10.1007/s00431-014-2375-6

By:

Haberlandt, Edda;
Zotter, Sibylle;
Witsch-Baumgartner, Martina;
Zschocke, Johannes;
Kotzot, Dieter

Publication type:

Article

Correction to: Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.

Published in:

2020

By:

Lepperdinger, Ulrike;
Maurer, Elisabeth;
Witsch-Baumgartner, Martina;
Stigler, Robert;
Zschocke, Johannes;
Lussi, Adrian;
Kapferer-Seebacher, Ines

Publication type:

Correction Notice

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.

Published in:

Clinical Oral Investigations, 2020, v. 24, n. 10, p. 3519, doi. 10.1007/s00784-020-03222-7

By:

Lepperdinger, Ulrike;
Maurer, Elisabeth;
Witsch-Baumgartner, Martina;
Stigler, Robert;
Zschocke, Johannes;
Lussi, Adrian;
Kapferer-Seebacher, Ines

Publication type:

Article

Identifying adult hypophosphatasia in the rheumatology unit.

Published in:

Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02572-7

By:

Feurstein, Julia;
Behanova, Martina;
Haschka, Judith;
Roetzer, Katharina;
Uyanik, Gökhan;
Hadzimuratovic, Benjamin;
Witsch-Baumgartner, Martina;
Schett, Georg;
Zwerina, Jochen;
Kocijan, Roland

Publication type:

Article

Filling the gap: Genetic risk assessment in hypercholesterolemia using LDL‐C and LPA genetic scores.

Published in:

Clinical Genetics, 2023, v. 104, n. 3, p. 334, doi. 10.1111/cge.14387

By:

Schwaninger, Gunda;
Forer, Lukas;
Ebenbichler, Christoph;
Dieplinger, Hans;
Kronenberg, Florian;
Zschocke, Johannes;
Witsch‐Baumgartner, Martina

Publication type:

Article

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 392, doi. 10.1002/ajmg.a.37452

By:

Fauth, Christine;
Steindl, Katharina;
Toutain, Annick;
Farrell, Sandra;
Witsch‐Baumgartner, Martina;
Karall, Daniela;
Joset, Pascal;
Böhm, Sebastian;
Baumer, Alessandra;
Maier, Oliver;
Zschocke, Johannes;
Weksberg, Rosanna;
Marshall, Christian R.;
Rauch, Anita

Publication type:

Article

Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck.

Published in:

Head & Neck, 2008, v. 30, n. 8, p. 1040, doi. 10.1002/hed.20831

By:

Schwentner, Ilona;
Witsch-Baumgartner, Martina;
Sprinzl, Georg M.;
Krugmann, Jens;
Tzankov, Alexandar;
Jank, Siegfried;
Zwierzina, Heinz;
Loeffler-Ragg, Judith

Publication type:

Article