Works by Rehder, Helga

Results: 40

Partial trisomy 1q syndrome.

Published in:

Clinical Genetics, 1979, v. 15, n. 6, p. 534, doi. 10.1111/j.1399-0004.1979.tb00838.x

By:

Rehder, Helga;
Friedrich, Ursula

Publication type:

Article

Situs ambiguus in a female fetus with balanced (X;21) translocation-evidence for functional nullisomy of the ZIC3 gene?

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 1, p. 34, doi. 10.1038/sj.ejhg.5201213

By:

Fritz, Barbara;
Kunz, Jürgen;
Knudsen, Gun Peggy Strømstad;
Louwen, Frank;
Kennerknecht, Ingo;
Eiben, Bernd;
Orstavik, Karen Helene;
Friedrich, Ursula;
Rehder, Helga

Publication type:

Article

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 12, p. 910, doi. 10.1038/sj.ejhg.5200741

By:

Fritz, Barbara;
Aslan, Mücevher;
Kalscheuer, Vera;
Ramsing, Mette;
Saar, Kathrin;
Fuchs, Brigitte;
Rehder, Helga

Publication type:

Article

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 7, p. 539, doi. 10.1038/sj.ejhg.5200669

By:

Fritz, Barbara;
Hallermann, Christian;
Olert, Jürgen;
Fuchs, Brigitte;
Bruns, Marion;
Aslan, Mücevher;
Schmidt, Stefan;
Coerdt, Wiltrud;
Müntefering, Horst;
Rehder, Helga

Publication type:

Article

Verleihung des österreichischen Ehrenkreuzes für Wissenschaft und Kunst erster Klasse für ihre wissenschaftlichen Verdienste um die Tumorzytogenetik und Tumorgenetik an Frau Prof. Dr. Christa Fonatsch.

Published in:

Medizinische Genetik, 2024, v. 36, n. 2, p. 139, doi. 10.1515/medgen-2024-2018

By:

Rehder, Helga

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

Neuropathology of Raine syndrome.

Published in:

Acta Neuropathologica, 2002, v. 103, n. 3, p. 281, doi. 10.1007/s00401-001-0469-5

By:

Rickert, Christian H.;
Rieder, Harald;
Rehder, Helga;
Hülskamp, Georg;
Hörnig-Franz, Isabel;
Louwen, Frank;
Paulus, Werner

Publication type:

Article

Fetal Manifestation of the Fine-Lubinsky Syndrome.

Published in:

Fetal Diagnosis & Therapy, 2008, v. 23, n. 3, p. 228, doi. 10.1159/000116746

By:

Schoner, Katharina;
Bald, Rainer;
Fritz, Barbara;
Rehder, Helga

Publication type:

Article

Clinical, Cytogenetic and Molecular Investigation in a Fetus with Wolf-Hirschhorn Syndrome with Paternally Derived 4p Deletion.

Published in:

Fetal Diagnosis & Therapy, 2004, v. 19, n. 3, p. 251, doi. 10.1159/000076707

By:

Dietze, Ilona;
Fritz, Barbara;
Huhle, Dagmar;
Simoens, Wouter;
Piecha, Ernestine;
Rehder, Helga

Publication type:

Article

Duplication dup(1)(q32q44) detected by comparative genomic hybridization (CGH): further delineation of trisomies 1q.

Published in:

2001

By:

Bartsch, Christine;
Aslan, Mücevher;
Köhler, Jutta;
Miny, Peter;
Horst, Jürgen;
Holzgreve, Wolfgang;
Rehder, Helga;
Fritz, Barbara;
Bartsch, C;
Aslan, M;
Köhler, J;
Miny, P;
Horst, J;
Holzgreve, W;
Rehder, H;
Fritz, B

Publication type:

journal article

Chromosome mosaicism of the placenta--a cause of developmental failure of the fetus?

Published in:

1989

By:

Schwinger, E.;
Seidl, Esther;
Klink, F.;
Rehder, Helga;
Seidl, E;
Rehder, H

Publication type:

journal article

Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation.

Published in:

1988

By:

Coerdt, Wiltrud;
Rehder, Helga;
Gebauer, Hans-Jürgen;
Holzgreve, Wolfgang;
Klink, Franz;
Miny, Peter;
Schulze, Bernt;
Coerdt, W;
Rehder, H;
Gebauer, H J;
Holzgreve, W;
Klink, F;
Miny, P;
Schulze, B

Publication type:

journal article

Prenatal diagnosis, fetal pathology and cytogenetic analysis of a 46,XX/47,XX, + 15 mosaic.

Published in:

1983

By:

Gimelli, G.;
Cuoco, Cristina;
Porro, E.;
Rehder, Helga;
Fraccaro, M.;
Cuoco, C;
Rehder, H

Publication type:

journal article

Prenatal morphology in meckel's syndrome (with special reference to polycystic kidneys and double encephalocele).

Published in:

Prenatal Diagnosis, 1981, v. 1, n. 3, p. 161, doi. 10.1002/pd.1970010302

By:

Rehder, Helga;
Labbé, Francois

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

Dilated, Arrhythmogenic Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy Due to the Emerin Splice-Site Mutation c.449 + 1G>A.

Published in:

Cardiology, 2015, v. 130, n. 1, p. 48, doi. 10.1159/000368222

By:

Finsterer, Josef;
Stöllberger, Claudia;
Sehnal, Ernst;
Rehder, Helga;
Laccone, Franco

Publication type:

Article

History and highlights of the teratological collection in the Narrenturm, Vienna (Austria).

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1301, doi. 10.1002/ajmg.a.63153

By:

Boer, Lucas L.;
Kircher, Susanne Gerit;
Rehder, Helga;
Behunova, Jana;
Winter, Eduard;
Ringl, Helmut;
Scharrer, Anke;
de Boer, Elke;
Oostra, Roelof‐Jan

Publication type:

Article

Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB‐related skeletal disorders in three fetuses and a 106‐year‐old exhibit.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1559, doi. 10.1002/ajmg.a.38828

By:

Rehder, Helga;
Laccone, Franco;
Kircher, Susanne G.;
Schild, Ralf L.;
Rapp, Christiane;
Bald, Rainer;
Schulze, Bernt;
Behunova, Jana;
Neesen, Juergen;
Schoner, Katharina

Publication type:

Article

Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1694, doi. 10.1002/ajmg.a.38209

By:

Schoner, Katharina;
Bald, Rainer;
Horn, Denise;
Rehder, Helga;
Kornak, Uwe;
Ehmke, Nadja

Publication type:

Article

Brain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02617-5

By:

Rehder, Helga;
Kircher, Susanne G.;
Schoner, Katharina;
Smogavec, Mateja;
Behunova, Jana;
Ihm, Ulrike;
Plassmann, Margit;
Hofer, Manuel;
Ringl, Helmut;
Laccone, Franco

Publication type:

Article

Marked differences in unilateral isolated retinoblastomas from young and older children studied by comparative genomic hybridization.

Published in:

Human Genetics, 2001, v. 108, n. 2, p. 98, doi. 10.1007/s004390000450

By:

Herzog, Susanne;
Lohmann, Dietmar R.;
Buiting, Karin;
Schüler, Andreas;
Horsthemke, Bernhard;
Rehder, Helga;
Rieder, Harald

Publication type:

Article

Illegitimate splicing of the NF1 gene in healthy individuals mimics mutation-induced splicing alterations in NF1 patients.

Published in:

Human Genetics, 2000, v. 106, n. 3, p. 311, doi. 10.1007/s004390000249

By:

Wimmer, Katharina;
Eckart, Markus;
Rehder, Helga;
Fonatsch, Christa

Publication type:

Article

BRCA2 germline mutations in familial pancreatic carcinoma.

Published in:

2003

By:

Hahn, Stephan A.;
Greenhalf, Bill;
Ellis, Ian;
Sina-Frey, Mercedes;
Rieder, Harald;
Korte, Birgit;
Gerdes, Berthold;
Kress, Ralf;
Ziegler, Andreas;
Raeburn, John A.;
Campra, Donata;
Grützmann, Robert;
Rehder, Helga;
Rothmund, Matthias;
Schmiegel, Wolff;
Neoptolemos, John P.;
Bartsch, Detlef K.;
Grützmann, Robert

Publication type:

journal article

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1133, doi. 10.1038/ejhg.2011.101

By:

Laccone, Franco;
Schoner, Katharina;
Krabichler, Birgit;
Kluge, Britta;
Schwerdtfeger, Robin;
Schulze, Bernt;
Zschocke, Johannes;
Rehder, Helga

Publication type:

Article

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.

Published in:

Journal of Bone & Mineral Research, 2021, v. 36, n. 6, p. 1077, doi. 10.1002/jbmr.4277

By:

Stürznickel, Julian;
Jähn‐Rickert, Katharina;
Zustin, Jozef;
Hennig, Floriane;
Delsmann, Maximilian M.;
Schoner, Katharina;
Rehder, Helga;
Kreczy, Alfons;
Schinke, Thorsten;
Amling, Michael;
Kornak, Uwe;
Oheim, Ralf

Publication type:

Article

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

Published in:

2013

By:

Schoner K;
Kohlhase J;
Müller AM;
Schramm T;
Plassmann M;
Schmitz R;
Neesen J;
Wieacker P;
Rehder H;
Schoner, Katharina;
Kohlhase, Juergen;
Müller, Annette M;
Schramm, Thomas;
Plassmann, Margit;
Schmitz, Ralf;
Neesen, Juergen;
Wieacker, Peter;
Rehder, Helga

Publication type:

journal article

Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. - Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.

Published in:

Prenatal Diagnosis, 2013, v. 33, n. 1, p. 75, doi. 10.1002/pd.4012

By:

Schoner, Katharina;
Kohlhase, Juergen;
Müller, Annette M.;
Schramm, Thomas;
Plassmann, Margit;
Schmitz, Ralf;
Neesen, Juergen;
Wieacker, Peter;
Rehder, Helga

Publication type:

Article

Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.

Published in:

Prenatal Diagnosis, 2012, v. 32, n. 2, p. 173, doi. 10.1002/pd.2928

By:

Rehder, Helga;
Schoner, Katharina;
Kluge, Britta;
Louwen, Frank;
Schwinger, Eberhard;
Neesen, Juergen

Publication type:

Article

Prenatal diagnosis and obstetric management of Larsen's syndrome in a patient with an unrecognized family history of the disease.

Published in:

1998

By:

Dören, Martina;
Rehder, Helga;
Holzgreve, Wolfgang;
Dören, M;
Rehder, H;
Holzgreve, W

Publication type:

journal article

Distal Arthrogryposis with Impaired Proprioception and Touch: Description of an Early Phenotype in a Boy with Compound Heterozygosity of PIEZO2 Mutations and Review of the Literature.

Published in:

Molecular Syndromology, 2018, v. 9, n. 6, p. 287, doi. 10.1159/000494451

By:

Behunova, Jana;
Gerykova Bujalkova, Maria;
Gras, Gabriel;
Taylor, Thomas;
Ihm, Ulrike;
Kircher, Susanne;
Rehder, Helga;
Laccone, Franco

Publication type:

Article

Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

Published in:

Clinical Genetics, 1990, v. 37, n. 2, p. 84, doi. 10.1111/j.1399-0004.1990.tb03484.x

By:

Ramsing, Mette;
Rehder, Helga;
Holzgreve, Wolfgang;
Meinecke, Peter;
Lenz, Widukind

Publication type:

Article

Roberts syndrome and SC phocomelia. A single genetic entity.

Published in:

Clinical Genetics, 1987, v. 31, n. 3, p. 170, doi. 10.1111/j.1399-0004.1987.tb02790.x

By:

Römke, Christiane;
Froster-Iskenius, Ursula;
Heyne, Klaus;
Höhn, Wolfram;
Hof, Marita;
Grzetszczyk, Grzegorz;
Rauskolb, Rüdiger;
Rehder, Helga;
Schwinger, Eberhard

Publication type:

Article

The fetal pathology of the XXXXY-syndrome.

Published in:

Clinical Genetics, 1986, v. 30, n. 3, p. 213, doi. 10.1111/j.1399-0004.1986.tb00597.x

By:

Rehder, Helga;
Fraccaro, M.;
Cuoco, Cristina;
Gimelli, G.;
Porro, E.

Publication type:

Article

Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology.

Published in:

Clinical Genetics, 1984, v. 26, n. 6, p. 549, doi. 10.1111/j.1399-0004.1984.tb01102.x

By:

Froster-Iskenius, Ursula;
Coerdt, Wiltrud;
Rehder, Helga;
Schwinger, E.

Publication type:

Article

Tracheal agenesis versus tracheal atresia: anatomical conditions, pathomechanisms and causes with a possible link to a novel MAPK11 variant in one case.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03106-z

By:

Pfeifer, Mateja;
Rehder, Helga;
Gerykova Bujalkova, Maria;
Bartsch, Christine;
Fritz, Barbara;
Knopp, Cordula;
Beckers, Björn;
Dohle, Frank;
Meyer-Wittkopf, Matthias;
Axt-Fliedner, Roland;
Beribisky, Alexander V.;
Hofer, Manuel;
Laccone, Franco;
Schoner, Katharina

Publication type:

Article

Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions.

Published in:

Birth Defects Research, 2024, v. 116, n. 11, p. 1, doi. 10.1002/bdr2.2410

By:

Boer, Lucas L.;
Wasserscheid, Andreas;
Winter, Eduard;
de Rooy, Laurens;
Schepens‐Franke, Annelieke N.;
Magno, Giovanni;
Cusan, Alice;
Rehder, Helga;
Behunova, Jana;
Scharrer, Anke;
Lobé, Nick;
Peloschek, Philipp;
Oostra, Roelof‐Jan;
Kircher, Susanne G.

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

Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.

Published in:

Human Mutation, 2000, v. 16, n. 1, p. 90, doi. 10.1002/1098-1004(200007)16:1<90::AID-HUMU20>3.0.CO;2-J

By:

Wimmer, Katharina;
Eckart, Markus;
Stadler, Peter F.;
Rehder, Helga;
Fonatsch, Christa

Publication type:

Article

Loss of heterozygosity of the retinoblastoma (RB1) gene in lipomas from a retinoblastoma patient.

Published in:

1998

By:

Rieder, Harald;
Lohmann, Dietmar;
Poensgen, Barbara;
Fritz, Barbara;
Aslan, Muecevher;
Drohm, Dorothea;
Angersbach, Franz-Josef Strombach;
Rehder, Helga;
Rieder, H;
Lohmann, D;
Poensgen, B;
Fritz, B;
Aslan, M;
Drohm, D;
Strombach Angersbach, F J;
Rehder, H

Publication type:

journal article