Jakubiczka, S.: search on Z-Library

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1

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities

Claudia Weiss, Sibylle Jakubiczka, Angela Huebner, Eva Klopocki, Wolfram Kress, Thomas Voit, Christoph Hübner, Markus Schuelke

Journal:

Year:

2007

Language:

english

File:

PDF, 334 KB

english, 2007

2

Expression, alternative splicing and haplotype analysis of transcribed testis specific protein (TSPY) genes

Roswitha Krick, Sibylle Jakubiczka, Joachim Arnemann

Journal:

Year:

2003

Language:

english

File:

PDF, 321 KB

english, 2003

3

Long-term persistence and effects of fetal microchimerisms on disease onset and status in a cohort of women with rheumatoid arthritis and systemic lupus erythematosus

Kekow, Marianne, Barleben, Maria, Drynda, Susanne, Jakubiczka, Sibylle, Kekow, Jörn, Brune, Thomas

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 185 KB

english, 2013

4

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP

Schreiber, Stefanie, Oldag, Andreas, Kornblum, Cornelia, Kollewe, Katja, Kropf, Siegfried, Schoenfeld, Ariel, Feistner, Helmut, Jakubiczka, Sibylle, Kunz, Wolfram S., Scherlach, Cordula, Tempelmann, C

Journal:

Year:

2013

Language:

english

File:

PDF, 1.81 MB

english, 2013

5

Brain 1H magnetic resonance spectroscopic differences in myotonic dystrophy type 2 and type 1

Stefan Vielhaber, Sibylle Jakubiczka, Charly Gaul, Mircea Ariel Schoenfeld, Grazyna Debska-Vielhaber, Stefan Zierz, Hans-Jochen Heinze, Heiko G. Niessen, Jörn Kaufmann

Journal:

Year:

2006

Language:

english

File:

PDF, 169 KB

english, 2006

6

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb

Stefan Vielhaber, Sibylle Jakubiczka, J. Michael Schröder, Michael Sailer, Helmut Feistner, Hans-Jochen Heinze, Peter Wieacker, Thomas Bettecken

Journal:

Year:

2002

Language:

english

File:

PDF, 375 KB

english, 2002

7

Intermittent Pre-Excitation-Syndrome in Facio-Scapulo-Humeral Muscular Dystrophy

Finsterer, Josef, Stöllberger, Claudia, Gatterer, Edmund, Jakubiczka, Sibylle

Journal:

Korean Circulation Journal

Year:

2014

Language:

english

File:

PDF, 746 KB

english, 2014

8

Genetic causes of male infertility

P. Wieacker, S. Jakubiczka

Journal:

Year:

1997

Language:

english

File:

PDF, 681 KB

english, 1997

9

A new point mutation of the androgen receptor gene in a patient with partial androgen resistance and severe oligozoospermia

I. Knoke, S. Jakubiczka, H. Lehnert, P. Wieacker

Journal:

Year:

1999

Language:

english

File:

PDF, 234 KB

english, 1999

10

Identification ofAluelements mediating a partialPMP22deletion

Verena Matejas, Kathrin Huehne, Christian Thiel, Claudia Sommer, Sibylle Jakubiczka, Bernd Rautenstrauss

Journal:

Year:

2006

Language:

english

File:

PDF, 382 KB

english, 2006

11

Analysis of the Transcobalamin II 776C>G (259P>R) Single Nucleotide Polymorphism by Denaturing HPLC in Healthy Elderly: Associations with Cobalamin, Homocysteine and Holo-Transcobalamin II

Wans, Stefan, Schüttler, Katrin, Jakubiczka, Sibylle, Müller, Andreas, Luley, Claus, Dierkes, Jutta

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2003

Language:

english

File:

PDF, 102 KB

english, 2003

12

Molekulargenetische Untersuchungen am Androgenrezeptor-Gen bei Patientinnen mit PCO-Syndrom

Jakubiczka, S., Quaiser, A., Nickel, I., Kleinstein, J., Wieacker, P.

Journal:

Geburtshilfe und Frauenheilkunde

Year:

1997

Language:

german

File:

PDF, 1.62 MB

german, 1997

13

Turner-Syndrom: Suche nach zytogenetisch nicht nachweisbaren Zellinien mit Y-Chromosom durch molekulargenetische Methoden

Jakubiczka, S., Mohnike, K., Wieacker, P.

Journal:

Geburtshilfe und Frauenheilkunde

Year:

1998

Language:

german

File:

PDF, 1.31 MB

german, 1998

14

Genetic deletion of calcium/calmodulin-dependent protein kinase type II delta does not mitigate adverse myocardial remodeling in volume-overloaded hearts

Mohamed, Belal A., Elkenani, Manar, Jakubiczka-Smorag, Joanna, Buchholz, Eric, Koszewa, Sabrina, Lbik, Dawid, Schnelle, Moritz, Hasenfuss, Gerd, Toischer, Karl

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 1.90 MB

english, 2019

15

Genetische Aspekte von Aborten

P. Wieacker, S. Jakubiczka, M. Volleth

Journal:

Reproduktionsmedizin

Year:

2002

Language:

german

File:

PDF, 125 KB

german, 2002

16

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

I Wieland, C Weidner, R Ciccone, E Lapi, D McDonald-McGinn, W Kress, S Jakubiczka, H Collmann, O Zuffardi, E Zackai, P Wieacker

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 296 KB

english, 2007

17

Clinical and molecular aspects of androgen receptor defects

P. Wieacker, I. Knoke, S. Jakubiczka

Year:

1998

Language:

english

File:

PDF, 657 KB

english, 1998

18

Organization and expression of bovineTSPY

Tanja Vogel, Frank Dechend, Eberhard Manz, Christian Jung, Sybille Jakubiczka, Susanne Fehr, Jörg Schmidtke, Frank Schnieders

Journal:

Mammalian Genome

Year:

1997

Language:

english

File:

PDF, 2.16 MB

english, 1997

19

Female pseudohermaphroditism caused by caudal dysgenesis

Wieacker, P., Grumpelt, U., Schulz, T.O., Gharavi, B., Avenarius, S., Jakubiczka, S., Stumm, M.

Journal:

Cytogenetic and Genome Research

Year:

2000

Language:

english

File:

PDF, 267 KB

english, 2000

20

Mutations of the androgen receptor gene in patients with complete androgen insensitivity

Sibylle Jakubiczka, Stefanie Nedel, Edmond A. Werder, Engelbert Schleiermacher, Ursel Theile, Gerhard Wolff, Peter Wieacker

Journal:

Year:

1997

Language:

english

File:

PDF, 185 KB

english, 1997

21

A Bovine Homologue of the Human TSPY Gene

Sibylle Jakubiczka, Frank Schnieders, Jorg Schmidtke

Journal:

Year:

1993

File:

PDF, 254 KB

1993

22

Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients

Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter, Burfeind, Peter, Reiss, Jochen, Smorag, Lukasz

Journal:

Year:

2016

Language:

english

File:

PDF, 1.58 MB

english, 2016

23

Genetisch bedingte Veränderungen des Androgenrezeptors und deren klinische Bedeutung

P. F. Wieacker, I. Knoke, T. Brosius, S. Jakubiczka

Journal:

Reproduktionsmedizin

Year:

1998

Language:

german

File:

PDF, 503 KB

german, 1998

24

Fazioskapulohumerale Muskeldystrophie

W. Kress, S. Jakubiczka, M.C. Koch

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 371 KB

german, 2009

25

Mapping of a further locus for X-linked craniofrontonasal syndrome

Wieland, I., Jakubiczka, S., Muschke, P., Wolf, A., Gerlach, L., Krawczak, M., Wieacker, P.

Journal:

Cytogenetic and Genome Research

Year:

2002

Language:

english

File:

PDF, 278 KB

english, 2002

26

Clustered GATA repeats (Bkm sequences) on the human Y chromosome

J. Arnemann, Sibylle Jakubiczka, J. Schmidtke, Renate Schäfer, J. T. Epplen

Journal:

Year:

1986

Language:

english

File:

PDF, 780 KB

english, 1986

27

Basal ganglia pathology in ALS is associated with neuropsychological deficits

Machts, J., Loewe, K., Kaufmann, J., Jakubiczka, S., Abdulla, S., Petri, S., Dengler, R., Heinze, H.-J., Vielhaber, S., Schoenfeld, M. A., Bede, P.

Journal:

Year:

2015

Language:

english

File:

PDF, 883 KB

english, 2015

28

Mutations of the Ephrin-B1 Gene Cause Craniofrontonasal Syndrome

Ilse Wieland, Sibylle Jakubiczka, Petra Muschke, Monika Cohen, Hannelore Thiele, Klaus L. Gerlach, Ralf H. Adams, Peter Wieacker

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.27 MB

english, 2004

29

Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin andOTC

Sibylle Jakubiczka, Thomas Bettecken, Klaus Mohnike, Reinhard Schneppenheim, Markus Stumm, Holger Tönnies, Marianne Volleth, Peter Wieacker

Journal:

European Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 116 KB

english, 2007

30

Duplication of dystrophin exon 18 in a DMD patient with mental retardation

Thomas Bettecken, Sibylle Jakubiczka, Ronald D. Cohn, Arpad von Moers, Astrid Speer, Angela Weber, Thomas Voit, Christoph Hübner

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 259 KB

english, 1997

31

Further evidence that imbalance of WT1 isoforms may be involved in Denys – Drash syndrome

Konlg, Anja, Jakubiczka, Sybille, Wleacker, Peter, Schlosser, Hans W., Gessler, Manfred

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.64 MB

english, 1993

32

Point mutation in the steroid-binding domain of the androgen receptor gene in a family with complete androgen insensitivity syndrome (CAIS)

Sibylle Jakubiczka, Edmond A. Werder, Peter Wieacker

Journal:

Year:

1992

Language:

english

File:

PDF, 325 KB

english, 1992

33

Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY

Arnemann, Joachim, Jakubiczka, Sibylle, ThÃ¼ring, Sabine, Schmidtke, JÃ¶rg

Journal:

Year:

1991

Language:

english

File:

PDF, 2.10 MB

english, 1991

34

P23. Basal ganglia pathology in amyotrophic lateral sclerosis is associated with cognitive and behavioural changes

Machts, J., Loewe, K., Kaufmann, J., Jakubiczka, S., Abdulla, S., Petri, S., Dengler, R., Heinze, H.-J., Schoenfeld, M.A., Vielhaber, S., Bede, P.

Journal:

Clinical Neurophysiology

Year:

2015

Language:

english

File:

PDF, 47 KB

english, 2015

35

Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing

Sibylle Jakubiczka, Beate Mitulla, Thomas Liehr, Joachim Arnemann, Hans Lehrach, Ralf Sudbrak, Markus Stumm, Peter F. Wieacker, Thomas Bettecken

Journal:

Prenatal Diagnosis

Year:

2000

Language:

english

File:

PDF, 98 KB

english, 2000

36

Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

D.-U. Kloos, S. Jakubiczka, T. Wienker, G. Wolff, P. Wieacker

Journal:

Year:

1997

Language:

english

File:

PDF, 107 KB

english, 1997

37

Regulation and germline-specific expression of the human Y-specific DNA segment pJA36B2

J. Arnemann, S. Jakubiczka, S. Thöring, J. Schmidtke

Journal:

Cell Differentiation and Development

Year:

1989

Language:

english

File:

PDF, 47 KB

english, 1989

38

Distribution of sex chromosomes in dysgenetic gonads of mixed type

R&ouml, pke, A., Kalinski, T., Mohnike, K., Sel, S., Jakubiczka, S., Pelz, A.-F., Roessner, A., Wieacker, P.F.

Journal:

Cytogenetic and Genome Research

Year:

2007

Language:

english

File:

PDF, 457 KB

english, 2007

39

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion

Michael Krasnianski, Stephan Neudecker, Katharina Eger, Sibylle Jakubiczka, Stephan Zierz

Journal:

Journal of Neurology

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

40

Histologic Analysis of Gonadal Tissue in Patients With Ullrich-Turner Syndrome and Derivative Y Chromosomes

L.-C. Horn, A. Limbach, W. Hoepffner, R.B. Tröbs, E. Keller, U.-G. Froster, C.E. Richter, S. Jakubiczka

Journal:

Pediatric and Developmental Pathology

Year:

2005

Language:

english

File:

PDF, 261 KB

english, 2005

41

Novel and Recurrent Mutations in Patients with Androgen Insensitivity Syndromes

Ledig, Susanne, Jakubiczka, Sibylle, Neulen, Joseph, Aulepp, Ute, Burck-Lehmann, Uta, Mohnike, Klaus, Thiele, Hannelore, Zierler, Hannelore, Brewer, Carole, Wieacker, Peter

Journal:

Hormone Research

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

42

Preferential Inactivation of a dupX(q23 → q27–28) Chromosome in a Girl with Mental Retardation and Dysmorphy

Volleth, M., Stumm, M., Mohnike, K., Kalscheuer, V.M., Jakubiczka, S., Wieacker, P.

Journal:

Year:

2001

Language:

english

File:

PDF, 245 KB

english, 2001

43

Frequency of CFTR gene mutations in males participating in an ICSI programme: Brief communication

Jakubiczka, S., Bettecken, Th., Stumm, M., Nickel, I., Müsebeck, J., Krebs, P., Fischer, Ch., Kleinstein, J., Wieacker, P.

Journal:

Human Reproduction

Year:

1999

Language:

english

File:

PDF, 40 KB

english, 1999

44

P1658microRNA 146a modulates activity of matrix-metalloproteinases in an in vitro model of arterial stiffness

Dannert, A, Schellinger, I N, Jakubiczka-Smorag, J, Mattern, K, Hasenfuss, G, Raaz, U

Journal:

European Heart Journal

Year:

2018

Language:

english

File:

PDF, 600 KB

english, 2018

45

Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)

Ilse Wieland, William Reardon, Sibylle Jakubiczka, Brunella Franco, Wolfram Kress, Catherine Vincent-Delorme, Patrick Thierry, Matt Edwards, Rainer König, Cristina Rusu, Susann Schweiger, Elizabeth Th

Journal:

Year:

2005

Language:

english

File:

PDF, 136 KB

english, 2005

46

Mice Lacking the Nuclear Pore Complex Protein ALADIN Show Female Infertility but Fail To Develop a Phenotype Resembling Human Triple A Syndrome

Huebner, A., Mann, P., Rohde, E., Kaindl, A. M., Witt, M., Verkade, P., Jakubiczka, S., Menschikowski, M., Stoltenburg-Didinger, G., Koehler, K.

Journal:

Molecular and Cellular Biology

Year:

2006

Language:

english

File:

PDF, 922 KB

english, 2006

47

Acute Abdomen in a Patient with Undiagnosed Complete Androgen Insensitivity - Akutes Abdomen bei einem Patienten mit nicht diagnostizierter vollständiger Androgen-Insensibilität -

Möckel, J., Jakubiczka, S., Reuss, C., Keck, C., Breckwoldt, M.

Journal:

Geburtshilfe und Frauenheilkunde

Year:

2000

File:

PDF, 360 KB

2000

48

Familial Translocation t(1;9) Associated with Macromastia: Molecular Cloning of the Breakpoints

Wieacker, P., Apeshiotis, N., Jakubiczka, S., Volleth, M., Wieland, I.

Journal:

Sexual Development

Year:

2007

Language:

english

File:

PDF, 311 KB

english, 2007

49

Another mutation within the HMG-box of the SRY gene associated with Swyer syndrome

Sibylle Jakubiczka, Thomas Bettecken, Markus Stumm, Josef Neulen, Peter Wieacker

Journal:

Year:

1999

Language:

english

File:

PDF, 12 KB

english, 1999

50

Agonadismus mit phänotypischer Variabilität bei zwei Geschwistern

P. Wieacker, R. Pfäffle, G. Zabel, S. Jakubiczka

Journal:

Reproduktionsmedizin

Year:

2003

Language:

german

File:

PDF, 178 KB

german, 2003

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