H. R. Waterham : rechercher sur Z-Library

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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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1

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Stephan Kemp, Aurora Pujol, Hans R. Waterham, Björn M. van Geel, Corinne D. Boehm, Gerald V. Raymond, Garry R. Cutting, Ronald J.A. Wanders, Hugo W. Moser

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 384 KB

english, 2001

2

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives

Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk IJlst, Ronald JA Wanders

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 224 KB

english, 2012

3

Infevers: An evolving mutation database for auto-inflammatory syndromes

Isabelle Touitou, Suzanne Lesage, Michael McDermott, Laurence Cuisset, Hal Hoffman, Catherine Dode, Nitza Shoham, Ebun Aganna, Jean-Pierre Hugot, Carol Wise, Hans Waterham, Denis Pugnere, Jacques Dema

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 269 KB

english, 2004

4

Smith-Lemli-Opitz Syndrome and the DHCR7 Gene

P. E. Jira, H. R. Waterham, R. J. A. Wanders, J. A. M. Smeitink, R. C. A. Sengers, R. A. Wevers

Journal:

Annals of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 174 KB

english, 2003

5

Autosomal recessive cerebellar ataxia caused by mutations in thePEX2gene

Caroline Sevin, Sacha Ferdinandusse, Hans R Waterham, Ronald J Wanders, Patrick Aubourg

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 341 KB

english, 2011

6

Peroxisome biogenesis in Hansenula polymorpha: different mutations in genes, essential for peroxisome biogenesis, cause different peroxisomal mutant phenotypes

Vladimir I. Titorenko, Hans R. Waterham, Peter Haima, Wim Harder, Marten Veenhuis

Journal:

FEMS Microbiology Letters

Année:

1992

Langue:

english

Fichier:

PDF, 748 KB

english, 1992

7

Genetics and molecular basis of human peroxisome biogenesis disorders

Hans R. Waterham, Merel S. Ebberink

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2012

Langue:

english

Fichier:

PDF, 720 KB

english, 2012

8

Functions and biosynthesis of plasmalogens in health and disease

Pedro Brites, Hans R Waterham, Ronald J.A Wanders

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Année:

2004

Langue:

english

Fichier:

PDF, 476 KB

english, 2004

9

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients with Rhizomelic Chondrodysplasia Punctata Type 1

Alison M. Motley, Pedro Brites, Lisya Gerez, Eveline Hogenhout, Janet Haasjes, Rob Benne, Henk F. Tabak, Ronald J.A. Wanders, Hans R. Waterham

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 563 KB

english, 2002

10

Biochemistry of Mammalian Peroxisomes Revisited

Wanders, Ronald J.A., Waterham, Hans R.

Journal:

Annual Review of Biochemistry

Année:

2006

Langue:

english

Fichier:

PDF, 618 KB

english, 2006

11

Mutational spectrum of Smith-Lemli-Opitz syndrome

Waterham, Hans R., Hennekam, Raoul C.M.

Journal:

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

Année:

2012

Langue:

english

Fichier:

PDF, 330 KB

english, 2012

12

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Ferdinandusse, Sacha, Waterham, Hans R, Heales, Simon JR, Brown, Garry K, Hargreaves, Iain P, Taanman, Jan-Willem, Gunny, Roxana, Abulhoul, Lara, Wanders, Ronald JA, Clayton, Peter T, Leonard, James V

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 698 KB

english, 2013

13

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

Berendse, Kevin, Ebberink, Merel S, IJlst, Lodewijk, Poll-The, Bwee, Wanders, Ronald J A, Waterham, Hans R

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 360 KB

english, 2013

14

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis

Scalais, Emmanuel, Bottu, Jean, Wanders, Ronald J. A., Ferdinandusse, Sacha, Waterham, Hans R., De Meirleir, Linda

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 91 KB

english, 2015

15

A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED-CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing

Sollie, Annet, Sijmons, Rolf H., Lindhout, Dick, van der Ploeg, Ans T., Rubio Gozalbo, M. Estela, Smit, G. Peter A., Verheijen, Frans, Waterham, Hans R., van Weely, Sonja, Wijburg, Frits A., Wijburg,

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 331 KB

english, 2013

16

Graphical user interfaces and visually disabled users

Poll, L.H.D., Waterham, R.P.

Journal:

IEEE Transactions on Rehabilitation Engineering

Année:

1995

Langue:

english

Fichier:

PDF, 584 KB

english, 1995

17

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 gene

Ebberink, M. S., Koster, J., Visser, G., Spronsen, F. v., Stolte-Dijkstra, I., Smit, G. P. A., Fock, J. M., Kemp, S., Wanders, R. J. A., Waterham, H. R.

Journal:

Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 575 KB

english, 2012

18

Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

van Maldegem, Bianca T., Duran, Marinus, Wanders, Ronald J. A., Niezen-Koning, Klary E., Hogeveen, Marije, Ijlst, Lodewijk, Waterham, Hans R., Wijburg, Frits A.

Journal:

JAMA The Journal of the American Medical Association

Année:

2006

Langue:

english

Fichier:

PDF, 167 KB

english, 2006

19

Clinical and biochemical characterization of four patients with mutations in ECHS1

Ferdinandusse, Sacha, Friederich, Marisa W., Burlina, Alberto, Ruiter, Jos P. N., Coughlin, Curtis R., Dishop, Megan K., Gallagher, Renata C., Bedoyan, Jirair K., Vaz, Frédéric M., Waterham, Hans R.,

Journal:

Orphanet Journal of Rare Diseases

Année:

2015

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2015

20

The neurology of rhizomelic chondrodysplasia punctata

Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee

Journal:

Orphanet Journal of Rare Diseases

Année:

2013

Langue:

english

Fichier:

PDF, 882 KB

english, 2013

21

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek, Clara D. M., Wortmann, Saskia B., Tarailo-Graovac, Maja, Langeveld, Mirjam, Ferreira, Carlos R., van de Kamp, Jiddeke M., Hollak, Carla E., Wasserman, Wyeth W., Waterham, Hans R., Wever

Journal:

Journal of Inherited Metabolic Disease

Année:

2018

Langue:

english

Fichier:

PDF, 898 KB

english, 2018

22

Integration of epidemiologic, pharmacologic, genetic and gut microbiome data in a drug–metabolite atlas

Liu, Jun, Lahousse, Lies, Nivard, Michel G., Bot, Mariska, Chen, Lianmin, van Klinken, Jan Bert, Thesing, Carisha S., Beekman, Marian, van den Akker, Erik Ben, Slieker, Roderick C., Waterham, Eveline,

Journal:

Nature Medicine

Année:

2020

Fichier:

PDF, 9.99 MB

2020

23

No cholesterol metabolism anomalies detectable in infants with hypertrophic pyloric stenosis

Raoul C.M. Hennekam, Hans R. Waterham, Ron J.A. Wanders, Daniel C. Aronson

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 48 KB

english, 2001

24

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

Fernanda A.A. Langius, Hans R. Waterham, Gerrit Jan Romeijn, Wendy Oostheim, Martina M.J. de Barse, Lambertus Dorland, Marinus Duran, Frits A. Beemer, Ronald J.A. Wanders, Bwee Tien Poll-The

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 153 KB

english, 2003

25

Peroxisome biogenesis disorders with prolonged survival: Phenotypic expression in a cohort of 31 patients

Bwee Tien Poll-The, Jeannette Gootjes, Marinus Duran, Johannis B.C. de Klerk, Liesbeth J. Maillette de Buy Wenniger-Prick, Ronald J.C. Admiraal, Hans R. Waterham, Ronald J.A. Wanders, Peter G. Barth

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 196 KB

english, 2004

26

Zellweger syndrome resulting from maternal isodisomy of chromosome 1

Claire L.S. Turner, David J. Bunyan, N. Simon Thomas, Deborah J.G. Mackay, Huw P. Jones, Hans R. Waterham, Ronald J.A. Wanders, I. Karen Temple

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 160 KB

english, 2007

27

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder

Sarar Mohamed, Ebtisam El-Meleagy, Abdelhaleem Nasr, Merel S. Ebberink, Ronald J.A. Wanders, Hans R. Waterham

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 93 KB

english, 2010

28

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Sabine Grønborg, Ralph Krätzner, Juliane Spiegler, Sacha Ferdinandusse, Ronald J.A. Wanders, Hans R. Waterham, Jutta Gärtner

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 172 KB

english, 2010

29

Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 905 KB

english, 2011

30

Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations

Grétel Oudesluijs, Marleen E.H. Simon, Rianne H.J. Burggraaf, Hans R. Waterham, Raoul C.M. Hennekam

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 224 KB

english, 2012

31

Mutations in PEX10 are a cause of autosomal recessive ataxia

Luc Régal, Merel S. Ebberink, Nathalie Goemans, Ronald J. A. Wanders, Linda De Meirleir, Jacques Jaeken, Maarten Schrooten, Rudy Van Coster, Hans R. Waterham

Journal:

Annals of Neurology

Année:

2010

Langue:

english

Fichier:

PDF, 173 KB

english, 2010

32

Lack of isoprenoid products raises ex vivo interleukin-1β secretion in hyperimmunoglobulinemia D and periodic fever syndrome

Joost Frenkel, Ger T. Rijkers, Saskia H. L. Mandey, Sandra W. M. Buurman, Sander M. Houten, Ronald J. A. Wanders, Hans R. Waterham, Wietse Kuis

Journal:

Arthritis & Rheumatism

Année:

2002

Langue:

english

Fichier:

PDF, 134 KB

english, 2002

33

Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency

Marit S. Schneiders, Sander M. Houten, Marjolein Turkenburg, Ronald J. A. Wanders, Hans R. Waterham

Journal:

Arthritis & Rheumatism

Année:

2006

Langue:

english

Fichier:

PDF, 170 KB

english, 2006

34

A role for geranylgeranylation in interleukin-1β secretion

Saskia H. L. Mandey, Loes M. Kuijk, Joost Frenkel, Hans R. Waterham

Journal:

Arthritis & Rheumatism

Année:

2006

Langue:

english

Fichier:

PDF, 81 KB

english, 2006

35

Peroxisome biogenesis

Hans R. Waterham, James M. Cregg

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 1.89 MB

english, 1997

36

Molecular basis of Refsum disease: Sequence variations in Phytanoyl-CoA Hydroxylase (PHYH) and the PTS2 receptor (PEX7)

Gerbert A. Jansen, Hans R. Waterham, Ronald J. A. Wanders

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 227 KB

english, 2004

37

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

Jeannette Gootjes, Frank Schmohl, Petra A.W. Mooijer, Conny Dekker, Hanna Mandel, Meral Topcu, Martina Huemer, M. von Schütz, Thorsten Marquardt, Jan A. Smeitink, Hans R. Waterham, Ronald J.A. Wanders

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 428 KB

english, 2004

38

Mutational spectrum and genotype–phenotype correlations in mevalonate kinase deficiency

Saskia H.L. Mandey, Marit S. Schneiders, Janet Koster, Hans R. Waterham

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 202 KB

english, 2006

39

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria

H. Bikker, H.D. Bakker, N.G.G.M. Abeling, B.T. Poll-The, W.J. Kleijer, D.S. Rosenblatt, H.R. Waterham, R.J.A. Wanders, M. Duran

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 195 KB

english, 2006

40

Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency

Sacha Ferdinandusse, Simone Denis, Eveline M. Hogenhout, Janet Koster, Carlo W.T. van Roermund, Lodewijk IJlst, Ann B. Moser, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 888 KB

english, 2007

41

The infevers autoinflammatory mutation online registry: update with new genes and functions

Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El-Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans Waterham, Carol Wise, Cyril Sarrauste de Menthiere, Isabelle Touitou

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 243 KB

english, 2008

42

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines

Merel S. Ebberink, Petra A.W. Mooyer, Janet Koster, Conny J.M. Dekker, François J.M. Eyskens, Carlo Dionisi-Vici, Peter T. Clayton, Peter G. Barth, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 489 KB

english, 2009

43

Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene

Emma L. Williams, Cecile Acquaviva, Antonio Amoroso, Francoise Chevalier, Marion Coulter-Mackie, Carla G. Monico, Daniela Giachino, Tricia Owen, Angela Robbiano, Eduardo Salido, Hans Waterham, Gill Ru

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 243 KB

english, 2009

44

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

Merel S. Ebberink, Janet Kofster, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 351 KB

english, 2010

45

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

Merel S. Ebberink, Petra A.W. Mooijer, Jeannette Gootjes, Janet Koster, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 243 KB

english, 2011

46

Identification of novel mutations in classical galactosemia

Annet M. Bosch, Lodewijk IJlst, Wendy Oostheim, Joyce Mulders, Henk D. Bakker, Frits A. Wijburg, Ronald J.A. Wanders, Hans R. Waterham

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 177 KB

english, 2005

47

Peroxisomes, Refsum's disease and the alpha- and omega-oxidation of phytanic acid

R.J.A. Wanders, J.C. Komen, S. Ferdinandusse, P. Brites, H.R. Waterham

Journal:

Chemistry and Physics of Lipids

Année:

2009

Langue:

english

Fichier:

PDF, 59 KB

english, 2009

48

Detection of nonsterol isoprenoids by HPLC–MS/MS

Linda Henneman, Arno G. van Cruchten, Simone W. Denis, Michael W. Amolins, Andrew T. Placzek, Richard A. Gibbs, Willem Kulik, Hans R. Waterham

Journal:

Analytical Biochemistry

Année:

2008

Langue:

english

Fichier:

PDF, 211 KB

english, 2008

49

Inherited disorders of cholesterol biosynthesis

Journal:

Clinical Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 125 KB

english, 2002

50

Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept

P. D. ARKWRIGHT, M. F. MCDERMOTT, S. M. HOUTEN, J. FRENKEL, H. R. WATERHAM, E. AGANNA, L. J. HAMMOND, R. M. MIRAKIAN, P. I. TOMLIN, P. I. VIJAYDURAI, A. J. CANT

Journal:

Clinical & Experimental Immunology

Année:

2002

Langue:

english

Fichier:

PDF, 79 KB

english, 2002