Marianne SCHWARTZ: search on Z-Library

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1

FIRST-TRIMESTER PRENATAL DIAGNOSIS OF CROUZON SYNDROME

MARIANNE SCHWARTZ, SVEN KREIBORG, FLEMMING SKOVBY

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 479 KB

english, 1996

2

High-resolution Melting Facilitates Mutation Screening of PYGM in Patients with McArdle Disease

Morten Duno, Ros Quinlivan, John Vissing, Marianne Schwartz

Journal:

Annals of Human Genetics

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

3

Characterization of two new dominant ClC-1 channel mutations associated with myotonia

Morten Grunnet, Thomas Jespersen, Eskild Colding-Jørgensen, Marianne Schwartz, Dan A. Klaerke, John Vissing, Søren-Peter Olesen, Morten Dunø

Journal:

Year:

2003

Language:

english

File:

PDF, 393 KB

english, 2003

4

Serine for glycine substitutions in the C-terminal third of the α1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta

Allan M. Lund, Flemming Skovby, Marianne Schwartz

Journal:

Year:

1997

Language:

english

File:

PDF, 192 KB

english, 1997

5

Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations

Flemming Wibrand, Tina D. Jeppesen, Anja L. Frederiksen, David B. Olsen, Morten Duno, Marianne Schwartz, John Vissing

Journal:

Year:

2010

Language:

english

File:

PDF, 348 KB

english, 2010

6

Improved Molecular Diagnosis of Dystrophin Gene Mutations Using the Multiplex Ligation-Dependent Probe Amplification Method

Schwartz, Marianne, Dunø, Morten

Journal:

Genetic Testing

Year:

2004

Language:

english

File:

PDF, 126 KB

english, 2004

7

Decrement of compound muscle action potential is related to mutation type in myotonia congenita

Eskild Colding-Jørgensen, Morten DunØ, Marianne Schwartz, John Vissing

Journal:

Year:

2003

Language:

english

File:

PDF, 203 KB

english, 2003

8

Åland eye disease: Linkage data

Schwartz, Marianne, Rosenberg, Thomas

Journal:

Year:

1991

Language:

english

File:

PDF, 541 KB

english, 1991

9

Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations

Nanna D. Rendtorff, Bolette Bjerregaard, Morten Frödin, Susanne Kjaergaard, Hanne Hove, Flemming Skovby, Karen Brøndum-Nielsen, Marianne Schwartz

Journal:

Year:

2005

Language:

english

File:

PDF, 292 KB

english, 2005

10

Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine

Fini, M. Elizabeth, Schwartz, Stephen G., Gao, Xiaoyi, Jeong, Shinwu, Patel, Nitin, Itakura, Tatsuo, Price, Marianne O., Price, Francis W., Varma, Rohit, Stamer, W. Daniel

Journal:

Progress in Retinal and Eye Research

Year:

2016

Language:

english

File:

PDF, 2.37 MB

english, 2016

11

Adrenal insufficiency in kidney transplant patients during low-dose prednisolone therapy: a cross-sectional case–control study

Valentin, Amalie, Borresen, Stina Willemoes, Rix, Marianne, Elung-Jensen, Thomas, Sørensen, Søren Schwartz, Feldt-Rasmussen, Ulla

Journal:

Nephrology Dialysis Transplantation

Year:

2019

Language:

english

File:

PDF, 367 KB

english, 2019

12

Paternal Inheritance of Mitochondrial DNA

Schwartz, Marianne, Vissing, John

Journal:

Boston Medical and Surgical Journal

Year:

2002

Language:

english

File:

PDF, 127 KB

english, 2002

13

Increased Reward-Related Behaviors during Sleep and Wakefulness in Sleepwalking and Idiopathic Nightmares

Perogamvros, Lampros, Aberg, Kristoffer, Gex-Fabry, Marianne, Perrig, Stephen, Cloninger, C. Robert, Schwartz, Sophie, Ferri, Raffaele

Journal:

Year:

2015

Language:

english

File:

PDF, 286 KB

english, 2015

14

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male

JAKOB GRANILD-JENSEN, UFFE BIRK JENSEN, MARIANNE SCHWARTZ, UFFE STENDER HANSEN

Journal:

Developmental Medicine & Child Neurology

Year:

2009

Language:

english

File:

PDF, 312 KB

english, 2009

15

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

Van Goethem, Gert, Schwartz, Marianne, Löfgren, Ann, Dermaut, Bart, Van Broeckhoven, Christine, Vissing, John

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

16

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 486 KB

english, 2012

17

Screening for Defined Cystic Fibrosis Mutations by Solid-Phase Minisequencing

Jalanko, Anu, Kere, Juha, Savilahti, Erkki, Schwartz, Marianne, SyvÃ¤nen, Ann-Christine, Ranki, Marjut, SÃ¶derlund, Hans

Journal:

Clinical Chemistry

Year:

1992

File:

PDF, 1.08 MB

1992

18

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

Finn Stener Jørgensen, Jens Bang, Lisbeth Tranebjærg, Lillian N. Berge, Sturla H. Eik-Nes, Marianne Schwartz

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 292 KB

english, 1994

19

Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

Kristin Eiklid, Lisbeth Tranebjærg, Hans G. Eiken, Jan C. Pedersen, Helge Michalsen, Gjermund Fluge, Marianne Schwartz, Bjørn R. Nilsen, Roald Bolle, Dag Skyberg, Helge Boman, Kare Berg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 201 KB

english, 1993

20

Late onset of stroke-like episode associated with a 3256C→T point mutation of mitochondrial DNA

Tina Dysgaard Jeppesen, Marianne Schwartz, Klaus Hansen, Else R. Danielsen, Flemming Wibrand, John Vissing

Journal:

Journal of the Neurological Sciences

Year:

2003

Language:

english

File:

PDF, 173 KB

english, 2003

21

Evaluation of the X-Linked High-Grade Myopia Locus (MYP1) with Cone Dysfunction and Color Vision Deficiencies

Metlapally, Ravikanth, Michaelides, Michel, Bulusu, Anuradha, Li, Yi-Ju, Schwartz, Marianne, Rosenberg, Thomas, Hunt, David M., Moore, Anthony T., Zu¨chner, Stephan, Rickman, Catherine Bowes, Young, T

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 346 KB

english, 2009

22

Electrocardiographic screening for drug-induced long qt to reduce sudden cardiac death in Psychiatric patients: a cost-effectiveness analysis

Poncet, Antoine, Gencer, Baris, Blondon, Marc, Gex-Fabry, Marianne, Combescure, Christophe, Shah, Dipen, Schwartz, Peter J., Besson, Marie, Girardin, François R.

Journal:

Clinical Therapeutics

Year:

2015

Language:

english

File:

PDF, 61 KB

english, 2015

23

Impact of Diabetes on Burn Injury: Preliminary Results From Prospective Study

Schwartz, Suzanne B., Rothrock, Michelanne, Barron-Vaya, Yolanda, Bendell, Chelsea, Kamat, Ameet, Midgett, Marianne, Abshire, Jill, Biebighauser, Kitra, Staiano-Coico, Lisa F., Yurt, Roger W.

Journal:

Journal of Burn Care & Research

Year:

2011

Language:

english

File:

PDF, 255 KB

english, 2011

24

Large genomic rearrangements in MECP2

Kirstine Ravn, Jytte Bieber Nielsen, Ola Husbeth Skjeldal, Alison Kerr, Maj Hulten, Marianne Schwartz

Journal:

Year:

2005

Language:

english

File:

PDF, 77 KB

english, 2005

25

Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3–p11.22 region

Suzanne M. Cremin, Wenda L. Greer, Rebecca Bodok-Nutzati, Marianne Schwartz, Monica Peacocke, Katherine A. Siminovitch

Journal:

Year:

1993

Language:

english

File:

PDF, 453 KB

english, 1993

26

Choroideremia: further evidence for assignment of the locus to Xq13–Xq21

Marianne Schwartz, T. Rosenberg, E. Niebuhr, C. Lundsteen, H. Sardemann, O. Andersen, Huan-Ming Yang, L. U. Lamm

Journal:

Year:

1986

Language:

english

File:

PDF, 534 KB

english, 1986

27

An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

Ravn, Kirstine, Wibrand, Flemming, Hansen, Flemming Juul, Horn, Nina, Rosenberg, Thomas, Schwartz, Marianne

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 112 KB

english, 2001

28

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

Schollen, Els, Kjaergaard, Susanne, Legius, Eric, Schwartz, Marianne, Matthijs, Gert

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 74 KB

english, 2000

29

Age-Dependent Inhibition of Neural Crest Migration by the Notochord Correlates with Alterations in the S103L Chondroitin Sulfate Proteoglycan

Zoé Pettway, Miriam Domowicz, Nancy B. Schwartz, Marianne Bronner-Fraser

Journal:

Experimental Cell Research

Year:

1996

Language:

english

File:

PDF, 1.07 MB

english, 1996

30

Single and multiple exposure tolerance study of cellulose sulfate gel: a Phase I safety and colposcopy study

Christine Mauck, Debra H. Weiner, Susan Ballagh, Mitchell Creinin, David F. Archer, Jill Schwartz, Helen Pymar, Jaim-Jou Lai, Marianne Callahan

Journal:

Year:

2001

Language:

english

File:

PDF, 1.06 MB

english, 2001

31

FemCap™ with removal strap: ease of removal, safety and acceptability

Christine K. Mauck, Debra H. Weiner, Mitchell D. Creinin, David F. Archer, Jill L. Schwartz, Helen C. Pymar, Susan A. Ballagh, Deborah M. Henry, Marianne M. Callahan

Journal:

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

32

Inhibiting RHOA Signaling in Mice Increases Glucose Tolerance and Numbers of Enteroendocrine and Other Secretory Cells in the Intestine

Petersen, Natalia, Frimurer, Thomas M., Pedersen, Marianne Terndrup, Egerod, Kristoffer L., Wewer Albrechtsen, Nicolai J., Holst, Jens J., Grapin-Botton, Anne, Jensen, Kim B., Schwartz, Thue W.

Journal:

Gastroenterology

Year:

2018

Language:

english

File:

PDF, 3.28 MB

english, 2018

33

394delTT: a Nordic cystic fibrosis mutation

Marianne Schwartz, Maria Anvret, Mireille Claustres, Hans Geir Eiken, Kristin Eiklid, Charlotte Schaedel, Lisa Stolpe, Lisbeth Tranebjærg

Journal:

Year:

1994

Language:

english

File:

PDF, 624 KB

english, 1994

34

A novel missense mutation inSUCLG1associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

Elsebet Ostergaard, Marianne Schwartz, Mustafa Batbayli, Ernst Christensen, Ola Hjalmarson, Gittan Kollberg, Elisabeth Holme

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 158 KB

english, 2010

35

A pilot clinical trial comparing an acid-buffering formulation (ACIDFORM gel) with metronidazole gel for the treatment of symptomatic bacterial vaginosis

Jose A. Simoes, Luis G. Bahamondes, Rodrigo P. S. Camargo, Valeria M. N. Alves, Lourens J. D. Zaneveld, Donald P. Waller, Jill Schwartz, Marianne M. Callahan, Christine K. Mauck

Journal:

British Journal of Clinical Pharmacology

Year:

2006

Language:

english

File:

PDF, 112 KB

english, 2006

36

Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood

Birthe S Olsen, Johanne MD Hahnemann, Marianne Schwartz, Elsebeth Østergaard

Journal:

Pediatric Diabetes

Year:

2007

Language:

english

File:

PDF, 82 KB

english, 2007

37

Endocrine and exocrine pancreatic function and the ΔF508 mutation in cystic fibrosis

Susanne Lanng, Marianne Schwartz, Birger Thorsteinsson, Christian Koch

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 252 KB

english, 1991

38

Biosynthesis of peptide precursors and protease inhibitors using new constitutive and inducible eukaryotic expression vectors

Teit Eliot Johansen, Marianne Skak Schøller, Susanne Tolstoy, Thue W. Schwartz

Journal:

Year:

1990

Language:

english

File:

PDF, 677 KB

english, 1990

39

Baseline variation and associations between subject characteristics and five cytokine biomarkers of vaginal safety among healthy non-pregnant women in microbicide trials

Raina N. Fichorova, Jaim-Jou Lai, Jill L. Schwartz, Debra H. Weiner, Christine K. Mauck, Marianne M. Callahan

Journal:

Year:

2011

Language:

english

File:

PDF, 212 KB

english, 2011

40

A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2

Jytte Bieber Nielsen, Kirstine Ravn, Marianne Schwartz

Journal:

Brain and Development

Year:

2001

Language:

english

File:

PDF, 56 KB

english, 2001

41

Effect of subintimal resection on initial outcome and restenosis for native coronary lesions and saphenous vein graft disease treated by directional coronary atherectomy A report from the Caveat I and II investigators

David R. Holmes Jr., Kirk N. Garratt, Jeffrey M. Isner, Marianne Kearney, Lisa G. Berdan, Robert S. Schwartz, Robert M. Califf, Eric J. Topol

Journal:

Journal of the American College of Cardiology

Year:

1996

Language:

english

File:

PDF, 1.09 MB

english, 1996

42

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

Stephen I. Goodman, Donna E. Stein, Sudha Schlesinger, Ernst Christensen, Marianne Schwartz, Cheryl R. Greenberg, Orly N. Elpeleg

Journal:

Year:

1998

Language:

english

File:

PDF, 245 KB

english, 1998

43

Muscle structural changes in mitochondrial myopathy relate to genotype

DavidB. Olsen, AnnikaR. Langkilde, MetteC. Ørngreen, Eigil Rostrup, Marianne Schwartz, John Vissing

Journal:

Journal of Neurology

Year:

2003

Language:

english

File:

PDF, 327 KB

english, 2003

44

MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

Nielsen, Jytte Bieber, Henriksen, Karen Friis, Hansen, Claus, Silahtaroglu, Asli, Schwartz, Marianne, Tommerup, Niels

Journal:

European Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 163 KB

english, 2001

45

Age differences of visual field impairment and mutation spectrum in Danish choroideremia patients

Thomas Rosenberg, Marianne Schwartz

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1994

Language:

english

File:

PDF, 368 KB

english, 1994

46

Induction of Enzymes Involved in the Catabolism of Deoxyribonucleosides and Ribonucleosides in Escherichia coli K 12

Karin Hammer-Jespersen, Agnete Munch-Petersen, Per Nygaard, Marianne Schwartz

Journal:

Year:

1971

Language:

english

File:

PDF, 536 KB

english, 1971

47

Deletion of a Gly-Pro-Pro repeat in the proα2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV

Allan M. Lund,Flemming Skovby,Marianne Schwartz

Journal:

Year:

1996

Language:

english

File:

PDF, 657 KB

english, 1996

48

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

Suzanne Granhøj Lindquist, Jørgen Erik Nielsen, Jette Stokholm, Marianne Schwartz, Mustafa Batbayli, Martin Ballegaard, Jesper Erdal, Katja Krabbe, Gunhild Waldemar

Journal:

Journal of the Neurological Sciences

Year:

2008

Language:

english

File:

PDF, 430 KB

english, 2008

49

Possible locus for polycystic kidney disease on chromosome 2

Nrby, Sren, Schwartz, Marianne

Journal:

Year:

1990

Language:

english

File:

PDF, 344 KB

english, 1990

50

Molecular phenotyping of human ovarian cancer stem cells unravels the mechanisms for repair and chemoresistance

Alvero, Ayesha B., Chen, Rui, Fu, Han-Hsuan, Montagna, Michele, Schwartz, Peter E., Rutherford, Thomas, Silasi, Dan-Arin, Steffensen, Karina D., Waldstrom, Marianne, Visintin, Irene, Mor, Gil

Journal:

Year:

2009

Language:

english

File:

PDF, 1.15 MB

english, 2009

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