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1

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossett

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

2

Psychopathology and familial stress – comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy

A. Von Gontard, M. Backes, C. Laufersweiler-Plass, C. Wendland, G. Lehmkuhl, K. Zerres, S. Rudnik-Schöneborn

Journal:

Journal of Child Psychology and Psychiatry

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

3

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

Carsten Bergmann, Klaus Zerres, Thomas Peschgens, Jan Senderek, Helmut Hörnchen, Sabine Rudnik-Schöneborn

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 172 KB

english, 2003

4

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

Journal:

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

5

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

Sabine Rudnik-Schöneborn, Silke Vogelgesang, Sven Armbrust, Luitgard Graul-Neumann, Christoph Fusch, Klaus Zerres

Journal:

Year:

2010

Language:

english

File:

PDF, 191 KB

english, 2010

6

Zystennieren – eine Übersicht

N. Ortiz Brüchle, A. Venghaus, J. von Bothmer, S. Rudnik-Schöneborn, T. Eggermann, C. Bergmann, K. Zerres

Journal:

medizinische genetik

Year:

2010

Language:

german

File:

PDF, 667 KB

german, 2010

7

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

K Zerres, J Senderek, S Rudnik-Schöneborn, T Eggermann, J Kunze, T Mononen, H Kääriäinen, J Kirfel, M Moser, R Buettner, C Bergmann

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 703 KB

english, 2004

8

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Bergmann, Carsten, Senderek, Jan, Windelen, Ellen, Kupper, Fabian, Middeldorf, Iris, Schneider, Frank, Dornia, Christian, Rudnik-Schoneborn, Sabine, Konrad, Martin, Schmitt, Claus P., Seeman, Tomas, N

Journal:

Kidney International

Year:

2005

Language:

english

File:

PDF, 497 KB

english, 2005

9

Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications

Sabine Rudnik-Schöneborn, Dorothee Röhrig, Graeme Morgan, Brunhilde Wirth, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 751 KB

english, 1994

10

Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy

Sabine Rudnik-Schöneborn, László Sztriha, Gururaj R. Aithala, Gunnar Houge, Liv M. Lægreid, Jürgen Seeger, Michael Huppke, Brunhilde Wirth, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 282 KB

english, 2003

11

A new case of proximal monosomy 1p36, extending the phenotype

Sabine Rudnik-Schöneborn, Klaus Zerres, Martin Häusler, Alexandra Lott, Timo Krings, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 183 KB

english, 2008

12

Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype

Miriam Elbracht, Andreas Roos, Nadine Schönherr, Sabine Busse, Reinhild Damen, Klaus Zerres, Sabine Rudnik-Schöneborn, Herdit Monika Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

13

Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation

Sabine Rudnik-Schöneborn, Tsutomu Takahashi, Sabine Busse, Thorsten Schmidt, Jan Senderek, Thomas Eggermann, Klaus Zerres

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 203 KB

english, 2010

14

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

R. Korinthenberg, M. Sauer, U.-P. Ketelsen, C. O. Hanemann, G. Stoll, M. Graf, A. Baborie, B. Volk, B. Wirth, S. Rudnik-Schöneborn, K. Zerres

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 610 KB

english, 1997

15

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik-Schöneborn, Klaus Zerres, Reinhard Buettner

Journal:

Year:

2005

Language:

english

File:

PDF, 1.98 MB

english, 2005

16

Determination of SMN1 and SMN2 copy number using TaqMan™ technology

Dirk Anhuf, Thomas Eggermann, Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

Year:

2003

Language:

english

File:

PDF, 112 KB

english, 2003

17

Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family

Birgit Zirn, Christoph Korenke, Michael Wagner, Sabine Rudnik-Schöneborn, Ulrich Müller

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

18

Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy

A. Von Gontard, C. Laufersweiler-Plass, M. Backes, K. Zerres, S. Rudnik-Schöneborn

Journal:

BJU International

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

19

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases

Dr. B. Wirth, S. Rudnik-Schöneborn, E. Hahnen, D. Röhrig, K. Zerres

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 894 KB

english, 1995

20

Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4

Klaus Zerres, Gabi Mücher, Sabine Rudnik-Schöneborn

Journal:

Year:

1994

Language:

english

File:

PDF, 166 KB

english, 1994

21

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers

Katrin Kausch, Clemens R. Müller, Tiemo Grimm, Kenneth Ricker, Marcella Rietschel, Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

Year:

1991

Language:

english

File:

PDF, 127 KB

english, 1991

22

Pregnancy and spinal muscular atrophy

Sabine Rudnik-Schöneborn, Klaus Zerres, Jaakko Ignatius, Marcella Rietschel

Journal:

Journal of Neurology

Year:

1992

Language:

english

File:

PDF, 471 KB

english, 1992

23

Autosomal recessive polycystic kidney disease

K. Zerres, Sabine Rudnik-Schöneborn, Carsten Steinkamm, Jutta Becker, Gabi Mücher

Journal:

Journal of Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 1.11 MB

english, 1998

24

Pathologie und Genetik hereditärer Zystennieren

B. Hermanns, J. Alfer, K. Fischedick, A. Stojanovic-Dedic, S. Rudnik-Schöneborn, R. Büttner, K. Zerres

Journal:

Year:

2003

Language:

german

File:

PDF, 680 KB

german, 2003

25

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Peter Reilich, Nicolai Schramm, Benedikt Schoser, Peter Schneiderat, Nicola Strigl-Pill, Josef Müller-Höcker, Wolfram Kress, Andreas Ferbert, Sabine Rudnik-Schöneborn, Johannes Noth, Hanns Lochmüller,

Journal:

Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 578 KB

english, 2010

26

Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1

Claudia Helmken, Yvonne Hofmann, Frank Schoenen, Gabriela Oprea, Heidrun Raschke, Sabine Rudnik-Schöneborn, Klaus Zerres, Brunhilde Wirth

Journal:

Year:

2003

Language:

english

File:

PDF, 946 KB

english, 2003

27

Different entities of proximal spinal muscular atrophy within one family

B. Wirth, D. Tessarolo, E. Hahnen, S. Rudnik-Schöneborn, H. Raschke, M. Liguori, M. Giacanelli, K. Zerres

Journal:

Year:

1997

Language:

english

File:

PDF, 206 KB

english, 1997

28

Kidney growth and renal function in unilateral multicystic dysplastic kidney disease

Ulrike John, Sabine Rudnik-Schöneborn, Klaus Zerres, Joachim Misselwitz

Journal:

Pediatric Nephrology

Year:

1998

Language:

english

File:

PDF, 57 KB

english, 1998

29

Mutations of theLMNAgene can mimic autosomal dominant proximal spinal muscular atrophy

Sabine Rudnik-Schöneborn, Elke Botzenhart, Thomas Eggermann, Jan Senderek, Benedikt G. H. Schoser, Rolf Schröder, Manfred Wehnert, Brunhilde Wirth, Klaus Zerres

Journal:

Year:

2007

Language:

english

File:

PDF, 284 KB

english, 2007

30

Humangenetische Beratung

K. Zerres, T. Grimm, S. Rudnik-Schöneborn

Journal:

medizinische genetik

Year:

2007

Language:

german

File:

PDF, 721 KB

german, 2007

31

Neuromuskuläre Krankheiten

T. Grimm, W. Kress, S. Rudnik-Schöneborn, K. Zerres

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 128 KB

german, 2009

32

Spinale Muskelatrophien

S. Rudnik-Schöneborn, K. Zerres

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 552 KB

german, 2009

33

Risikoberechnungen beim autosomal-rezessiven Erbgang

T. Grimm, C. Fischer, S. Langer, S. Rudnik-Schöneborn, K. Zerres

Journal:

medizinische genetik

Year:

2011

Language:

german

File:

PDF, 938 KB

german, 2011

34

Genotype–phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

S Rudnik-Schöneborn, C Berg, K Zerres, C Betzler, T Grimm, T Eggermann, K Eggermann, R Wirth, B Wirth, R Heller

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 665 KB

english, 2009

35

Brugada-like cardiac disease in myotonic dystrophy type 2: report of two unrelated patients

S. Rudnik-Schöneborn, M. Schaupp, A. Lindner, W. Kress, E. Schulze-Bahr, S. Zumhagen, M. Elbracht, K. Zerres

Journal:

European Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 439 KB

english, 2011

36

Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings

C Laufersweiler-Plass, S Rudnik-Schöneborn, K Zerres, M Backes, G Lehmkuhl, A von Gontard

Journal:

Developmental Medicine & Child Neurology

Year:

2003

Language:

english

File:

PDF, 90 KB

english, 2003

37

Myofiber Degeneration in Autosomal Dominant Emery–Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B)

Michel Mittelbronn, Frank Hanisch, Marc Gleichmann, Mechthild Stötter, Rudolf Korinthenberg, Manfred Wehnert, Gisèle Bonne, Sabine Rudnik-Schöneborn, Antje Bornemann

Journal:

Brain Pathology

Year:

2006

Language:

english

File:

PDF, 655 KB

english, 2006

38

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Lehtokari, Vilma-Lotta, Pelin, Katarina, Donner, Kati, Voit, Thomas, Rudnik-Schöneborn, Sabine, Stoetter, Mechthild, Talim, Beril, Topaloglu, Haluk, Laing, Nigel G, Wallgren-Pettersson, Carina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 268 KB

english, 2008

39

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Senderek, Jan, Krieger, Michael, Stendel, Claudia, Bergmann, Carsten, Moser, Markus, Breitbach-Faller, Nico, Rudnik-Schöneborn, Sabine, Blaschek, Astrid, Wolf, Nicole I, Harting, Inga

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 240 KB

english, 2005

40

An essential SMN interacting protein (SIP1) is not involved in the phenotypic variability of spinal muscular atrophy (SMA)

Helmken, C, Wetter, A, Rudnik-Schöneborn, S, Liehr, T, Zerres, K, Wirth, B

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 384 KB

english, 2000

41

Somatic mosaicism for a heterozygous deletion of the survival motor neuron (SMN1) gene

Eggermann, Thomas, Zerres, Klaus, Anhuf, Dirk, Kotzot, Dieter, Fauth, Christine, Rudnik-Schöneborn, Sabine

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 142 KB

english, 2004

42

Extensor-tendon hypoplasia and multiple pterygia: Escobar syndrome in a 7-year-old boy

A. Aslani, U. Kleiner, E.M. Noah, N. Pallua, S. Rudnik-Schöneborn

Journal:

British Journal of Plastic Surgery

Year:

2002

Language:

english

File:

PDF, 7.38 MB

english, 2002

43

Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender

K Zerres, S Rudnik-Schöneborn, F Deget, U Holtkamp, J Brodehl, J Geisert, K Schärer, , the Arbeitsgemeinschaft für Pädiatrische Nephrologie

Journal:

Acta Paediatrica

Year:

1996

Language:

english

File:

PDF, 724 KB

english, 1996

44

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships

F. Deget, S. Rudnik-Schöneborn, K. Zerres

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 493 KB

english, 1995

45

Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy

Kay W. Nolte, Sonja Trepels-Kottek, Dagmar Honnef, Joachim Weis, Christian G. Bien, Andreas van Baalen, Klaus Ritter, Birgit Czermin, Sabine Rudnik-Schöneborn, Norbert Wagner, Martin Häusler

Journal:

Year:

2012

Language:

english

File:

PDF, 2.29 MB

english, 2012

46

Fine Mapping and Narrowing of the Genetic Interval of the Spinal Muscular Atrophy Region by Linkage Studies

B. Wirth, B. Voosen, D. Röhrig, M. Knappt, B. Piechaczek, S. Rudnik-Schöneborn, K. Zerres

Journal:

Year:

1993

File:

PDF, 315 KB

1993

47

Large Linkage Analysis in 100 Families with Autosomal Recessive Spinal Muscular Atrophy (SMA) and 11 CEPH Families Using 15 Polymorphic Loci in the Region 5q11.2-q13.3

B. Wirth, E. Pick, A. Leutner, A. Dadze, B. Voosen, M. Knapp, B. Piechaczek-Wappenschmidt, S. Rudnik-Schöneborn, J. Schönling, S. Cox, N.K. Spurr, K. Zerres

Journal:

Year:

1994

File:

PDF, 554 KB

1994

48

Fine Mapping of the Autosomal Recessive Polycystic Kidney Disease Locus (PKHD1) and the Genes MUT, RDS, CSNK2β, and GSTA1 at 6p21.1–p12

Gabi Mücher, Jutta Becker, Michael Knapp, Reinhard Büttner, Markus Moser, Sabine Rudnik-Schöneborn, Stefan Somlo, Greg Germino, Luiz Onuchic, Ellis Avner, Lisa Guay-Woodford, Klaus Zerres

Journal:

Year:

1998

Language:

english

File:

PDF, 225 KB

english, 1998

49

Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration

Sabine Rudnik-Schöneborn, Brunhilde Wirth, Dorothee Röhrig, Helmut Saule, Klaus Zerres

Journal:

Neuromuscular Disorders

Year:

1995

Language:

english

File:

PDF, 383 KB

english, 1995

50

L’amyotrophie spinale distale de type 1 (DSMA1 ou SMARD1)

A.M. Kaindl, U.-P. Guenther, S. Rudnik-Schöneborn, R. Varon, K. Zerres, P. Gressens, M. Schuelke, C. Hubner, K. von Au

Journal:

Archives de Pédiatrie

Year:

2008

File:

PDF, 332 KB

2008

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