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51

Legal and ethical consequences of international biobanking from a national perspective: the German BMB-EUCoop project

Goebel, Jürgen W, Pickardt, Thomas, Bedau, Maren, Fuchs, Michael, Lenk, Christian, Paster, Inga, Spranger, Tarde M, Stockter, Ulrich, Bauer, Ulrike, Cooper, David N

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 189 KB

english, 2009

52

Etiology and pathogenesis of the prune belly syndrome

Straub, Eberhard, Spranger, Jürgen

Journal:

Kidney International

Year:

1981

Language:

english

File:

PDF, 524 KB

english, 1981

53

Effective RNAi-mediated gene silencing without interruption of the endogenous microRNA pathway

John, Matthias, Constien, Rainer, Akinc, Akin, Goldberg, Michael, Moon, Young-Ah, Spranger, Martina, Hadwiger, Philipp, Soutschek, Jürgen, Vornlocher, Hans-Peter, Manoharan, Muthiah

Journal:

Year:

2007

Language:

english

File:

PDF, 289 KB

english, 2007

54

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Winterpacht, Andreas, Hilbert, Matthias, Schwarze, Ulrike, Mundlos, Stefan, Spranger, Jürgen, Zabel, Bernhard U.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 410 KB

1993

55

Consuming Fructose-sweetened Beverages Increases Body Adiposity in Mice

Hella Jürgens, Wiltrud Haass, Tamara R. Castañeda, Annette Schürmann, Corinna Koebnick, Frank Dombrowski, Bärbel Otto, Andrea R. Nawrocki, Philipp E. Scherer, Jochen Spranger, Michael Ristow, Hans-Geo

Journal:

Year:

2005

Language:

english

File:

PDF, 543 KB

english, 2005

56

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

Schiller, Simone, Spranger, Stephanie, Schechinger, Birgit, Fukami, Maki, Merker, Sabine, Drop, Stenvert LS, Tröger, Jochen, Knoblauch, Hans, Kunze, Jürgen, Seidel, Jörg

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 379 KB

english, 2000

57

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Zankl, Andreas, Jackson, Gail C, Crettol, Laureane Mittaz, Taylor, Jacky, Elles, Rob, Mortier, Geert R, Spranger, Jurgen, Zabel, Bernhard, Unger, Sheila, Merrer, Martine Le

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

58

Enchondromatosis revisited: New classification with molecular basis

Andrea Superti-Furga, Jürgen Spranger, Gen Nishimura

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2012

Language:

english

File:

PDF, 401 KB

english, 2012

59

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome

Ekkehart Lausch, Pia Hermanns, Henner F. Farin, Yasemin Alanay, Sheila Unger, Sarah Nikkel, Christoph Steinwender, Gerd Scherer, Jürgen Spranger, Bernhard Zabel, Andreas Kispert, Andrea Superti-Furga

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 615 KB

english, 2008

60

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.10 MB

english, 2009

61

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia

Ekkehart Lausch, Romy Keppler, Katja Hilbert, Valerie Cormier-Daire, Sarah Nikkel, Gen Nishimura, Sheila Unger, Jürgen Spranger, Andrea Superti-Furga, Bernhard Zabel

Journal:

The American Journal of Human Genetics

Year:

2009

File:

PDF, 145 KB

2009

62

Brain-Derived Neurotrophic Factor Improves Long-Term Potentiation and Cognitive Functions after Transient Forebrain Ischemia in the Rat

Irina Kiprianova, Jürgen Sandkühler, Stefan Schwab, Siegfried Hoyer, Matthias Spranger

Journal:

Experimental Neurology

Year:

1999

Language:

english

File:

PDF, 184 KB

english, 1999

63

L-FABP T94A is associated with fasting triglycerides and LDL-cholesterol in women

Eva Fisher, Cornelia Weikert, Maja Klapper, Inka Lindner, Matthias Möhlig, Joachim Spranger, Heiner Boeing, Jürgen Schrezenmeir, Frank Döring

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

64

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia

Paul Holden, Elizabeth G. Canty, Geert R. Mortier, Bernhard Zabel, Jurgen Spranger, Andrew Carr, Michael E. Grant, John A. Loughlin, Michael D. Briggs

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 366 KB

english, 1999

65

Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia

Eri Arikawa-Hirasawa, Alexander H. Le, Ichizo Nishino, Ikuya Nonaka, Nicola C. Ho, Clair A. Francomano, Prasanthi Govindraj, John R. Hassell, Joseph M. Devaney, Jürgen Spranger, Roger E. Stevenson, Su

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 783 KB

english, 2002

66

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Christian T. Thiel, Denise Horn, Bernhard Zabel, Arif B. Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, Jürgen Spranger, Dietmar Müller, Christiane Zweier, Mark E. Schmitt, A

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 1.48 MB

english, 2005

67

Further delineation of the 3-M syndrome with review of the literature

Raoul C. M. Hennekam, Jan B. Bijlsma, Jürgen Spranger, Giovanni Neri

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 706 KB

english, 1987

68

Maroteaux-lamy disease (mucopolysaccharidosis VI), subtype A: Deficiency of a N-acetylgalactosamine-4-sulfatase

John F. O'Brien, Michael Cantz, Jürgen Spranger

Journal:

Biochemical and Biophysical Research Communications

Year:

1974

Language:

english

File:

PDF, 431 KB

english, 1974

69

Mucolipidosis I: Increased sialic acid content and deficiency of an α-N-acetylneuraminidase in cultured fibroblasts

Michael Cantz, Jürgen Gehler, Jürgen Spranger

Journal:

Biochemical and Biophysical Research Communications

Year:

1977

Language:

english

File:

PDF, 356 KB

english, 1977

70

I-cell disease: A clinical picture

Jules G. Leroy, Jürgen W. Spranger, Murray Feingold, John M. Opitz, Allen C. Crocker

Journal:

The Journal of Pediatrics

Year:

1971

Language:

english

File:

PDF, 2.26 MB

english, 1971

71

Syndromes A, syndromes B, syndromes C

Spranger, Jürgen

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 73 KB

english, 2013

72

Heterogeneity of nonlethal severe short-limbed dwarfism

Giovanni Romeo, Jonathan Zonana, David L. Rimoin, Ralph S. Lachman, Charles I. Scott Jr., Elisabeth G. Kaveggia, Jurgen W. Spranger, John M. Opitz

Journal:

The Journal of Pediatrics

Year:

1977

Language:

english

File:

PDF, 3.29 MB

english, 1977

73

The phenotypic variability of diastrophic dysplasia

William A. Horton, David L. Rimoin, Ralph S. Lachman, Flemming Skovby, David W. Hollister, Jurgen Spranger, Charles I. Scott, Judith G. Hall

Journal:

The Journal of Pediatrics

Year:

1978

Language:

english

File:

PDF, 355 KB

english, 1978

74

Prune belly syndrome and urethral obstruction

Eberhard Straub, Jürgen Spranger

Journal:

The Journal of Pediatrics

Year:

1980

Language:

english

File:

PDF, 197 KB

english, 1980

75

Attention deficit syndrome in children born to alcoholic mothers

Jürgen Spranger

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 97 KB

english, 1981

76

Weyers acrodental dysostosis in a family

Martin Roubicek, Jurgen Spranger

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 304 KB

english, 1984

77

Age- and Sex-Specific Reference Intervals Across Life Span for Insulin-Like Growth Factor Binding Protein 3 (IGFBP-3) and the IGF-I to IGFBP-3 Ratio Measured by New Automated Chemiluminescence Assays

Friedrich, Nele, Wolthers, Ole D., Arafat, Ayman M., Emeny, Rebecca T., Spranger, Joachim, Roswall, Josefine, Kratzsch, Jürgen, Grabe, Hans J., Hübener, Christoph, Pfeiffer, Andreas F. H., Döring, Ang

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2014

Language:

english

File:

PDF, 794 KB

english, 2014

78

Letter to the editor

Spranger, Jurgen

Journal:

Year:

1991

Language:

english

File:

PDF, 94 KB

english, 1991

79

Grebe Dysplasia And The Spectrum Of CDMP1 Mutations

Stelzer, Christiane, Winterpacht, Andreas, Spranger, Jürgen, Zabel, Bernhard

Journal:

Fetal and Pediatric Pathology

Year:

2003

Language:

english

File:

PDF, 2.82 MB

english, 2003

80

Nonperturbative, quantum-mechanical approach to ion collisions from molecular targets

Lüdde, Hans Jürgen, Spranger, Tobias, Horbatsch, Marko, Kirchner, Tom

Journal:

Physical Review A

Year:

2009

Language:

english

File:

PDF, 130 KB

english, 2009

81

Autopsy Observations in Lethal Short-Rib Polydactyly Syndromes

Okiro, Patricia, Wainwright, Helen, Spranger, Jürgen, Beighton, Peter

Journal:

Pediatric and Developmental Pathology

Year:

2015

Language:

english

File:

PDF, 974 KB

english, 2015

82

Skelettdysplasien: Definition, Diagnose, Klassifikation

Spranger, Jürgen

Journal:

Orthopädie & Rheuma

Year:

2014

Language:

german

File:

PDF, 1.08 MB

german, 2014

83

A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation

Horn, Denise, Prescott, Trine, Houge, Gunnar, Brække, Kristin, Rosendahl, Karen, Nishimura, Gen, FitzPatrick, David R., Spranger, Jürgen

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 666 KB

english, 2015

84

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia

Winterpacht, Andreas, Schwarze, Ulrike, Mundlos, Stefan, Menger, Hartmut, Spranger, Jürgen, Zabel, Bernhard

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 5.06 MB

english, 1994

85

Hypochondroplasia: Clinical and Radiological Aspects in 39 cases 1

Hall, Bryan D., Spranger, Jurgen

Journal:

Year:

1979

File:

PDF, 610 KB

1979

86

Hypochondroplasia: Clinical and Radiological Aspects in 39 cases 1

Hall, Bryan D., Spranger, Jurgen

Journal:

Year:

1979

Language:

english

File:

PDF, 610 KB

english, 1979

87

Thanatophoric Dwarfism

Langer, Leonard O., Spranger, Jürgen W., Greinacher, I., Herdman, Roger C.

Journal:

Year:

1969

Language:

english

File:

PDF, 999 KB

english, 1969

88

The Radiographic Features of Mannosidosis 1

Spranger, Jürgen, Gehler, Jürgen, Cantz, Michael

Journal:

Year:

1976

Language:

english

File:

PDF, 664 KB

english, 1976

89

Familial Congenital Bowing with Short Bones 1

Hall, Bryan D., Spranger, Jürgen W.

Journal:

Year:

1979

Language:

english

File:

PDF, 363 KB

english, 1979

90

Spondyloepiphyseal Dysplasia Congenita 1

Spranger, Jürgen W., Densler, James

Journal:

Year:

1970

Language:

english

File:

PDF, 918 KB

english, 1970

91

Genetic disorders of connective tissues

Mundlos, Stefan, Spranger, Jürgen

Journal:

Current Opinion in Rheumatology

Year:

1991

File:

PDF, 499 KB

1991

92

AN UNUSUAL BONE DYSPLASIA: PARASTREMMATIC DWARFISM

LANGER, LEONARD O., PETERSEN, DIETRICH, SPRANGER, JURGEN

Journal:

American Journal of Roentgenology

Year:

1970

Language:

english

File:

PDF, 1.48 MB

english, 1970

93

Beyond osteogenesis imperfecta: Causes of fractures during infancy and childhood

Bronicki, Lucas M., Stevenson, Roger E., Spranger, Jürgen W.

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.37 MB

english, 2015

94

Skeletal dysplasias in children

Spranger, Jürgen

Journal:

Current Opinion in Pediatrics

Year:

1991

File:

PDF, 513 KB

1991

95

John M Opitz, Founder of AJMG, awarded the German Merit of Honor

Spranger, Jürgen

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 108 KB

english, 2017

96

Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity

Iida, Aritoshi, Xing, Weirong, Docx, Martine K F, Nakashima, Tomoki, Wang, Zheng, Kimizuka, Mamori, Van Hul, Wim, Rating, Dietz, Spranger, Jürgen, Ohashi, Hirohumi, Miyake, Noriko, Matsumoto, Naomichi

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 1.07 MB

english, 2016

97

THE STICKLER SYNDROME

Herrmann, Jurgen, France, Thomas D, Spranger, Jurgen W, Opitz, John H

Journal:

Pediatric Research

Year:

1974

Language:

english

File:

PDF, 132 KB

english, 1974

98

MAINZ CONGENITAL BIRTH DEFECT MONITORING SYSTEM

Queiber-Luft, Annette, Hauck, Gabriela, Spranger, Jürgen

Journal:

Pediatric Research

Year:

1994

Language:

english

File:

PDF, 138 KB

english, 1994

99

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

WINTERPACHT, ANDREAS, HILBERT, KATJA, STELZER, CHRISTIANE, SCHWEIKARDT, THORSTEN, DECKER, HEINZ, SEGERER, HUGO, SPRANGER, JÜRGEN, ZABEL, BERNHARD

Journal:

Physiological Genomics

Year:

2000

Language:

english

File:

PDF, 169 KB

english, 2000

100

Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type

Campos-Xavier, Belinda, Rogers, R. Curtis, Niel-Bütschi, Florence, Ferreira, Catarina, Unger, Sheila, Spranger, Jürgen, Superti-Furga, Andrea

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 508 KB

english, 2018

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