Works matching AU Zenker, Martin

Results: 150

Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome.

Published in:

Human Mutation, 2022, v. 43, n. 12, p. 1866, doi. 10.1002/humu.24472

By:

Treimer, Ernestine;
Kalayci, Tugba;
Schumann, Sven;
Suer, Ilknur;
Greco, Sara;
Schanze, Denny;
Schmeisser, Michael J.;
Kühl, Susanne J.;
Zenker, Martin

Publication type:

Article

Pathogenic PTPN11 variants involving the poly‐glutamine Gln255‐Gln256‐Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.

Published in:

Human Mutation, 2020, v. 41, n. 6, p. 1171, doi. 10.1002/humu.24007

By:

Martinelli, Simone;
Pannone, Luca;
Lissewski, Christina;
Brinkmann, Julia;
Flex, Elisabetta;
Schanze, Denny;
Calligari, Paolo;
Anselmi, Massimiliano;
Pantaleoni, Francesca;
Canale, Viviana Claudia;
Radio, Francesca Clementina;
Ioannides, Adonis;
Rahner, Nils;
Schanze, Ina;
Josifova, Dragana;
Bocchinfuso, Gianfranco;
Ryten, Mina;
Stella, Lorenzo;
Tartaglia, Marco;
Zenker, Martin

Publication type:

Article

Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Published in:

Human Mutation, 2018, v. 39, n. 11, p. 1485, doi. 10.1002/humu.23624

By:

Grant, Andrew R.;
Cushman, Brandon J.;
Cavé, Hélène;
Dillon, Mitchell W.;
Gelb, Bruce D.;
Gripp, Karen W.;
Lee, Jennifer A.;
Mason‐Suares, Heather;
Rauen, Katherine A.;
Tartaglia, Marco;
Vincent, Lisa M.;
Zenker, Martin

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 11, p. 1112, doi. 10.1002/humu.22830

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Bramswig, Nuria C.;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
der Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

Published in:

Human Mutation, 2015, v. 36, n. 8, p. 787, doi. 10.1002/humu.22809

By:

Martinelli, Simone;
Stellacci, Emilia;
Pannone, Luca;
D'Agostino, Daniela;
Consoli, Federica;
Lissewski, Christina;
Silvano, Marianna;
Cencelli, Giulia;
Lepri, Francesca;
Maitz, Silvia;
Pauli, Silke;
Rauch, Anita;
Zampino, Giuseppe;
Selicorni, Angelo;
Melançon, Serge;
Digilio, Maria C.;
Gelb, Bruce D.;
Luca, Alessandro;
Dallapiccola, Bruno;
Zenker, Martin

Publication type:

Article

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Published in:

Human Mutation, 2015, v. 36, n. 6, p. 593, doi. 10.1002/humu.22795

By:

Sukalo, Maja;
Tilsen, Felix;
Kayserili, Hülya;
Müller, Dietmar;
Tüysüz, Beyhan;
Ruddy, Deborah M.;
Wakeling, Emma;
Ørstavik, Karen Helene;
Snape, Katie M.;
Trembath, Richard;
Smedt, Maryse;
Aa, Nathalie;
Skalej, Martin;
Mundlos, Stefan;
Wuyts, Wim;
Southgate, Laura;
Zenker, Martin

Publication type:

Article

Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall- Smith Syndrome.

Published in:

Human Mutation, 2014, v. 35, n. 9, p. 1092, doi. 10.1002/humu.22603

By:

Schanze, Denny;
Neubauer, Dorothée;
Cormier‐Daire, Valerie;
Delrue, Marie‐Ange;
Dieux‐Coeslier, Anne;
Hasegawa, Tomonobu;
Holmberg, Eva E.;
Koenig, Rainer;
Krueger, Gabriele;
Schanze, Ina;
Seemanova, Eva;
Shaw, Adam C.;
Vogt, Julie;
Volleth, Marianne;
Reis, André;
Meinecke, Peter;
Hennekam, Raoul C.M.;
Zenker, Martin

Publication type:

Article

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 33, doi. 10.1002/humu.21377

By:

Gremer, Lothar;
Merbitz-Zahradnik, Torsten;
Dvorsky, Radovan;
Cirstea, Ion C.;
Kratz, Christian Peter;
Zenker, Martin;
Wittinghofer, Alfred;
Ahmadian, Mohammad Reza

Publication type:

Article

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

Published in:

Human Mutation, 2010, v. 31, n. 6, p. 722, doi. 10.1002/humu.21253

By:

Zweier, Markus;
Gregor, Anne;
Zweier, Christiane;
Engels, Hartmut;
Sticht, Heinrich;
Wohlleber, Eva;
Bijlsma, Emilia K.;
Holder, Susan E.;
Zenker, Martin;
Rossier, Eva;
Grasshoff, Ute;
Johnson, Diana S.;
Robertson, Lisa;
Firth, Helen V.;
Cornelia Kraus;
Ekici, Arif B.;
Reis, André;
Rauch, Anita

Publication type:

Article

Recurrent inversion with concomitant deletion and insertion events in the coagulation factor VIII gene suggests a new mechanism for X-chromosomal rearrangements causing hemophilia A.

Published in:

Human Mutation, 2007, v. 28, n. 10, p. 1045, doi. 10.1002/humu.9506

By:

Mühle, Christiane;
Zenker, Martin;
Chuzhanova, Nadia;
Schneider, Holm

Publication type:

Article

Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 6, p. 1, doi. 10.1210/jendso/bvac056

By:

Vossschulte, Hendrik;
Mohnike, Konrad;
Mohnike, Klaus;
Warncke, Katharina;
Akcay, Ayse;
Zenker, Martin;
Wieland, Ilse;
Schanze, Ina;
Hoefele, Julia;
Förster, Christine;
Barthlen, Winfried;
Stahlberg, Kim;
Empting, Susann

Publication type:

Article

Eponym: Johanson-Blizzard syndrome.

Published in:

2011

By:

Rezaei, Nima;
Sabbaghian, Mozhgan;
Zhifeng Liu;
Zenker, Martin;
Liu, Zhifeng

Publication type:

journal article

Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome.

Published in:

2011

By:

Fallahi, Gholam Hossein;
Sabbaghian, Mozhgan;
Khalili, Manijeh;
Parvaneh, Nima;
Zenker, Martin;
Rezaei, Nima

Publication type:

journal article

Goltz–Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1207, doi. 10.1038/ejhg.2009.40

By:

Harmsen, May-Britt;
Azzarello-Burri, Silvia;
García González, M Mar;
Gillessen-Kaesbach, Gabriele;
Meinecke, Peter;
Müller, Dietmar;
Rauch, Anita;
Rossier, Eva;
Seemanova, Eva;
Spaich, Christiane;
Steiner, Bernhard;
Wieczorek, Dagmar;
Zenker, Martin;
Kutsche, Kerstin

Publication type:

Article

Generation of functional cardiomyocytes from rat embryonic and induced pluripotent stem cells using feeder-free expansion and differentiation in suspension culture.

Published in:

PLoS ONE, 2018, v. 13, n. 3, p. 1, doi. 10.1371/journal.pone.0192652

By:

Dahlmann, Julia;
Awad, George;
Dolny, Carsten;
Weinert, Sönke;
Richter, Karin;
Fischer, Klaus-Dieter;
Munsch, Thomas;
Leßmann, Volkmar;
Volleth, Marianne;
Zenker, Martin;
Chen, Yaoyao;
Merkl, Claudia;
Schnieke, Angelika;
Baraki, Hassina;
Kutschka, Ingo;
Kensah, George

Publication type:

Article

Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling.

Published in:

Cellular & Molecular Neurobiology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10571-024-01505-1

By:

Guhathakurta, Debarpan;
Selzam, Franziska;
Petrušková, Aneta;
Weiss, Eva-Maria;
Akdaş, Enes Yağız;
Montenegro-Venegas, Carolina;
Zenker, Martin;
Fejtová, Anna

Publication type:

Article

Novel NPHS1 Gene Mutation in an Iranian Patient with Congenital Nephrotic Syndrome of the Finnish Type.

Published in:

2013

By:

Ameli, Sonbol;
Zenker, Martin;
Zare-Shahabadi, Ameneh;
Taher Esfahani, Seyed;
Madani, Abbas;
Monajemzadeh, Maryam;
Bazargani, Behnaz;
Ataei, Nematollah;
Hajezadeh, Niloofar;
Rezaei, Nima

Publication type:

Case Study

NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.

Published in:

Nefrologia, 2012, v. 32, n. 5, p. 674, doi. 10.3265/Nefrologia.pre2012.Jun.11428

By:

Ameli, Sonbol;
Mazaheri, Mojgan;
Zare-Shahabadi, Ameneh;
Ozaltin, Fatih;
Asgarian, Fahimeh;
Monajemzadeh, Maryam;
Bazargani, Behnaz;
Ataei, Nematollah;
Hajezadeh, Niloofar;
Madani, Abbas;
Esfahani, Taher;
Isaian, Anna;
Zenker, Martin;
Rezaei, Nima

Publication type:

Article

RASopathien.

Published in:

Medizinische Genetik, 2016, v. 28, n. 1, p. 15, doi. 10.1007/s11825-016-0080-8

By:

Zenker, Martin;
Kutsche, Kerstin

Publication type:

Article

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Published in:

2018

By:

Chang, Jui-Hsing;
Hsu, Chyong-Hsin;
Lin, Pei-Yi;
Lin, Shuan-Pei;
Tsai, Jeng-Daw;
Lin, Chun-Chen;
Lee, Ming-Dar;
Tseng, Min-Hua;
Zenker, Martin;
Rao, Jia;
Hildebrandt, Friedhelm;
Lin, Shih-Hua

Publication type:

journal article

Corrigendum: Germline KRAS mutations cause Noonan syndrome.

Published in:

2006

By:

Schubbert, Suzanne;
Zenker, Martin;
Rowe, Sara L;
Böll, Silke;
Klein, Cornelia;
Bollag, Gideon;
van der Burgt, Ineke;
Musante, Luciana;
Kalscheuer, Vera;
Wehner, Lars-Erik;
Nguyen, Hoa;
West, Brian;
Zhang, Kam Y J;
Sistermans, Erik;
Rauch, Anita;
Niemeyer, Charlotte M;
Shannon, Kevin;
Kratz, Christian P

Publication type:

Correction Notice

Germline KRAS mutations cause Noonan syndrome.

Published in:

Nature Genetics, 2006, v. 38, n. 3, p. 331, doi. 10.1038/ng1748

By:

Schubbert, Suzanne;
Zenker, Martin;
Rowe, Sara L.;
Böll, Silke;
Klein, Cornelia;
Bollag, Gideon;
van der Burgt, Ineke;
Musante, Luciana;
Kalscheuer, Vera;
Wehner, Lars-Erik;
Nguyen, Hoa;
West, Brian;
Zhang, Kam Y. J.;
Sistermans, Erik;
Rauch, Anita;
Niemeyer, Charlotte M.;
Shannon, Kevin;
Kratz, Christian P.

Publication type:

Article

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

2006

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Correction Notice

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M.;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R.;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A.;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W.;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L.;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Article

Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.

Published in:

Turkish Journal of Pediatrics, 2009, v. 51, n. 5, p. 493

By:

Türkkanı-Asal, Gülten;
Alanay, Yasemin;
Turul-Özgür, Tuba;
Zenker, Martin;
Thiel, Christian;
Rauch, Anita;
Ünal, Şule;
Gürgey, Aytemiz;
Tezcan, İlhan

Publication type:

Article

Three-dimensional morphometric analysis of the lateral clavicle and acromion: Implications for surgical treatment using subacromial support.

Published in:

SAGE Open Medicine, 2022, v. 10, p. 1, doi. 10.1177/20503121221091395

By:

Zenker, Martin;
Shamsollahi, Javad;
Galm, André;
Hoyen, Harry A;
Jiang, Chunyan;
Lambert, Simon;
Nijs, Stefaan;
Jaeger, Martin

Publication type:

Article

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome.

Published in:

PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0024925

By:

Cheol-Sang Hwang;
Sukalo, Maja;
Batygin, Olga;
Addor, Marie-Claude;
Brunner, Han;
Aytes, Antonio Perez;
Mayerle, Julia;
Hyun Kyu Song;
Varshavsky, Alexander;
Zenker, Martin

Publication type:

Article

Corrigendum: Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression.

Published in:

2015

By:

Richter, Anni;
Guitart-Masip, Marc;
Barman, Adriana;
Libeau, Catherine;
Behnisch, Gusalija;
Czerney, Sophia;
Schanze, Denny;
Assmann, Anne;
Klein, Marieke;
Düzel, Emrah;
Zenker, Martin;
Seidenbecher, Constanze;
Schott, Björn H.

Publication type:

Correction Notice

Valenced action/inhibition learning in humans is modulated by a genetic variant linked to dopamine D2 receptor expression.

Published in:

Frontiers in Systems Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnsys.2014.00140

By:

Richter, Anni;
Guitart-Masip, Marc;
Barman, Adriana;
Libeau, Catherine;
Behnisch, Gusalija;
Czerney, Sophia;
Schanze, Denny;
Assmann, Anne;
Klein, Marieke;
Düzel, Emrah;
Zenker, Martin;
Seidenbecher, Constanze I.;
Schott, Björn H.

Publication type:

Article

Genetic variation of the RASGRF1 regulatory region affects human hippocampus-dependent memory.

Published in:

Frontiers in Human Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnhum.2014.00260

By:

Barman, Adriana;
Assmann, Anne;
Richter, Sylvia;
Soch, Joram;
Hartmut Schütze;
Torsten Wüstenberg;
Deibele, Anna;
Marieke Klein;
Richter, Anni;
Gusalija Behnisch;
Emrah Düzel;
Zenker, Martin;
Seidenbecher, Constanze I.;
Schott, Björn H.

Publication type:

Article

Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene.

Published in:

Behavioral & Brain Functions, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1744-9081-9-20

By:

Freunscht, Inga;
Popp, Bernt;
Blank, Rainer;
Endele, Sabine;
Moog, Ute;
Petri, Holger;
Prott, Eva-Christina;
Reis, Andre;
Rübo, Jochen;
Zabel, Bernhard;
Zenker, Martin;
Hebebrand, Johannes;
Wieczorek, Dagmar

Publication type:

Article

Recurrent Johanson-Blizzard Syndrome in a Triplet Pregnancy Complicated by Urethral Obstruction Sequence: A Clinical, Molecular, and Immunohistochemical Approach.

Published in:

Pediatric & Developmental Pathology, 2012, v. 15, n. 1, p. 50, doi. 10.2350/11-04-1020-OA.1

By:

Schoner, Katharina;
Fritz, Barbara;
Huelskamp, Georg;
Louwen, Frank;
Zenker, Martin;
Moll, Roland;
Rehder, Helga

Publication type:

Article

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Published in:

Child's Nervous System, 2012, v. 28, n. 12, p. 2181, doi. 10.1007/s00381-012-1905-7

By:

Yimenicioğlu, Sevgi;
Yakut, Ayten;
Karaer, Kadri;
Zenker, Martin;
Ekici, Arzu;
Çarman, Kürşat

Publication type:

Article

Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

Published in:

In Vivo, 2022, v. 36, n. 1, p. 274, doi. 10.21873/invivo.12701

By:

FRIEDRICH, REINHARD E.;
GOSAU, MARTIN;
LUEBKE, ANDREAS M.;
HAGEL, CHRISTIAN;
KOHLRUSCH, FELIX K.;
HAHN, MICHAEL;
KROGE, SIMON VON;
HAHN, JAN;
WIELAND, ILSE;
ZENKER, MARTIN

Publication type:

Article

Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Published in:

2021

By:

FRIEDRICH, REINHARD E.;
ZUSTIN, JOZEF;
LUEBKE, ANDREAS M.;
ROSENBAUM, THORSTEN;
GOSAU, MARTIN;
HAGEL, CHRISTIAN;
KOHLRUSCH, FELIX K.;
WIELAND, ILSE;
ZENKER, MARTIN

Publication type:

Case Study

KRAS Mutation in an Implant-associated Peripheral Giant Cell Granuloma of the Jaw: Implications of Genetic Analysis of the Lesion for Treatment Concept and Surveillance.

Published in:

2021

By:

FRIEDRICH, REINHARD E.;
WÜSTHOFF, FALK;
LUEBKE, ANDREAS M.;
KOHLRUSCH, FELIX K.;
WIELAND, ILSE;
ZENKER, MARTIN;
GOSAU, MARTIN

Publication type:

Case Study

Functional assessment of two variants of unknown significance in TEK by endothelium-specific expression in zebrafish embryos.

Published in:

Human Molecular Genetics, 2022, v. 31, n. 1, p. 10, doi. 10.1093/hmg/ddab196

By:

Bell, Lorenz M;
Holm, Annegret;
Matysiak, Uta;
Driever, Wolfgang;
Rößler, Jochen;
Schanze, Denny;
Wieland, Ilse;
Niemeyer, Charlotte M;
Zenker, Martin;
Kapp, Friedrich G

Publication type:

Article

Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 11, p. 1772, doi. 10.1093/hmg/ddz108

By:

Motta, Marialetizia;
Sagi-Dain, Lena;
Krumbach, Oliver H F;
Hahn, Andreas;
Peleg, Amir;
German, Alina;
Lissewski, Christina;
Coppola, Simona;
Pantaleoni, Francesca;
Kocherscheid, Luisa;
Altmüller, Franziska;
Schanze, Denny;
Logeswaran, Thushiha;
Chahrokh-Zadeh, Soheyla;
Munzig, Anna;
Nakhaei-Rad, Saeideh;
Cavé, Hélène;
Ahmadian, Mohammad R;
Tartaglia, Marco;
Zenker, Martin

Publication type:

Article

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 6, p. 1007, doi. 10.1093/hmg/ddy412

By:

Motta, Marialetizia;
Fidan, Miray;
Bellacchio, Emanuele;
Pantaleoni, Francesca;
Schneider-Heieck, Konstantin;
Coppola, Simona;
Borck, Guntram;
Salviati, Leonardo;
Zenker, Martin;
Cirstea, Ion C;
Tartaglia, Marco

Publication type:

Article

Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 8, p. 1643, doi. 10.1093/hmg/ddt014

By:

Lorenz, Sybille;
Lissewski, Christina;
Simsek-Kiper, Pelin O.;
Alanay, Yasemin;
Boduroglu, Koray;
Zenker, Martin;
Rosenberger, Georg

Publication type:

Article

Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 2, p. 262, doi. 10.1093/hmg/dds426

By:

Cirstea, Ion C.;
Gremer, Lothar;
Dvorsky, Radovan;
Zhang, Si-Cai;
Piekorz, Roland P.;
Zenker, Martin;
Ahmadian, Mohammad Reza

Publication type:

Article

QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum.

Published in:

Clinical Genetics, 2021, v. 99, n. 1, p. 199, doi. 10.1111/cge.13853

By:

Föhrenbach, Melanie;
Jamra, Rami Abou;
Borkhardt, Arndt;
Brozou, Triantafyllia;
Muschke, Petra;
Popp, Bernt;
Rey, Linda K.;
Schaper, Jörg;
Surowy, Harald;
Zenker, Martin;
Zweier, Christiane;
Wieczorek, Dagmar;
Redler, Silke

Publication type:

Article

Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810

By:

Draaisma, Fieke;
Leenders, Erika K. S. M.;
Erasmus, Corrie E.;
Braakman, Hilde M. H.;
Burgers, Melanie C. J.;
Coppens, Catelijne H.;
Rinne, Tuula;
Zenker, Martin;
Tartaglia, Marco;
Reintjes, Wesley;
Voermans, Nicol C.;
van Engelen, Baziel G. M.;
van Alfen, Nens;
Draaisma, Jos M. T.

Publication type:

Article

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti‐seizure medication.

Published in:

American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 301, doi. 10.1002/ajmg.a.63428

By:

Kenney‐Jung, Daniel L.;
Collazo‐Lopez, Josue E.;
Rogers, Dante J.;
Shanley, Ryan;
Zatkalik, Abigail L.;
Whitmarsh, Ashley E.;
Roberts, Amy E.;
Zenker, Martin;
Pierpont, Elizabeth I.

Publication type:

Article

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3623, doi. 10.1002/ajmg.a.62410

By:

Uludağ Alkaya, Dilek;
Lissewski, Christina;
Yeşil, Gözde;
Zenker, Martin;
Tüysüz, Beyhan

Publication type:

Article

Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3122, doi. 10.1002/ajmg.a.62386

By:

Schmidt, Vanessa Franziska;
Wieland, Ilse;
Wohlgemuth, Walter A.;
Ricke, Jens;
Wildgruber, Moritz;
Zenker, Martin

Publication type:

Article

Aplasia cutis congenita in a CDC42‐related developmental phenotype.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 850, doi. 10.1002/ajmg.a.62009

By:

Schnabel, Franziska;
Kamphausen, Susanne B.;
Funke, Rudolf;
Kaulfuß, Silke;
Wollnik, Bernd;
Zenker, Martin

Publication type:

Article

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1681, doi. 10.1002/ajmg.a.61610

By:

Kunz, Felix;
Kayserili, Hülya;
Midro, Alina;
Silva, Deepthi;
Basnayake, Sriyani;
Güven, Yeliz;
Borys, Jan;
Schanze, Denny;
Stellzig‐Eisenhauer, Angelika;
Bloch‐Zupan, Agnes;
Zenker, Martin

Publication type:

Article

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 773, doi. 10.1002/ajmg.a.61495

By:

Midro, Alina T.;
Stasiewicz‐Jarocka, Beata;
Borys, Jan;
Hubert, Ewa;
Skotnicka, Bożena;
Hassmann‐Poznańska, Elżbieta;
Sierpińska, Teresa;
Panasiuk, Barbara;
Schanze, Denny;
Zenker, Martin

Publication type:

Article

ADA2 deficiency in a patient with Noonan syndrome‐like disorder with loose anagen hair: The co‐occurrence of two rare syndromes.

Published in:

American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2474, doi. 10.1002/ajmg.a.61363

By:

Akgun‐Dogan, Ozlem;
Simsek‐Kiper, Pelin O.;
Taskiran, Ekim;
Lissewski, Christina;
Brinkmann, Julia;
Schanze, Denny;
Göçmen, Rahşan;
Cagdas, Deniz;
Bilginer, Yelda;
Utine, Gülen E.;
Zenker, Martin;
Ozen, Seza;
Tezcan, İlhan;
Alikasifoglu, Mehmet;
Boduroğlu, Koray

Publication type:

Article