Hoff, William van’t: search on Z-Library

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1

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

Simon Waller, Tom Kurzawinski, Lewis Spitz, Rajesh Thakker, Treena Cranston, Simon Pearce, Tim Cheetham, William G. van’t Hoff

Journal:

European Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 197 KB

english, 2004

2

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Ashton, Emma J., Legrand, Anne, Benoit, Valerie, Roncelin, Isabelle, Venisse, Annabelle, Zennaro, Maria-Christina, Jeunemaitre, Xavier, Iancu, Daniela, van’t Hoff, William G., Walsh, Stephen B., Godef

Journal:

Kidney International

Year:

2018

Language:

english

File:

PDF, 225 KB

english, 2018

3

Burosumab Therapy in Children with X-Linked Hypophosphatemia

Carpenter, Thomas O., Whyte, Michael P., Imel, Erik A., Boot, Annemieke M., Högler, Wolfgang, Linglart, Agnès, Padidela, Raja, van’t Hoff, William, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, Kakkis,

Journal:

New England Journal of Medicine

Year:

2018

Language:

english

File:

PDF, 320 KB

english, 2018

4

VOC Removal from Manure Gaseous Emissions with UV Photolysis and UV-TiO2 Photocatalysis

Yang, Xiuyan, Koziel, Jacek A., Laor, Yael, Zhu, Wenda, van Leeuwen, J. (Hans), Jenks, William S., Hoff, Steven J., Zimmerman, Jeffrey, Zhang, Shicheng, Ravid, Uzi, Armon, Robert

Journal:

Year:

2020

File:

PDF, 3.35 MB

2020

5

Secretion of a Large Molecular-Weight Form of Insulin-Like Growth Factor by a Primary Renal Tumor

Elizabeth Korn, Jack van Hoff, Patrick Buckley, William H. Daughaday, Thomas O. Carpenter

Journal:

Pediatric Blood & Cancer

Year:

1995

Language:

english

File:

PDF, 416 KB

english, 1995

6

Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation

Bingham, Coralie, Ellard, Sian, van't Hoff, William G, Simmonds, H Anne, Marinaki, Anthony M, Badman, Michael K, Winocour, Peter H, Stride, Amanda, Lockwood, Christopher R, Nicholls, Anthony J, Owen,

Journal:

Kidney International

Year:

2003

Language:

english

File:

PDF, 116 KB

english, 2003

7

Clinical and molecular aspects of nephropathic cystinosis

Geraldine A. McDowell, Margaret M. Town, William van’t Hoff, W. A. Gahl

Journal:

Journal of Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 486 KB

english, 1998

8

Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria

Karen L. Price, Sally-Anne Hulton, William G. van’t Hoff, John R. Masters, Gill Rumsby

Journal:

Year:

2009

Language:

english

File:

PDF, 506 KB

english, 2009

9

Diagnosis of aortic coarctation by tardus-parvus renal artery Doppler signal in an infant with multicystic dysplastic kidney: a case report

Kate Park, Kieran McHugh, William van’t Hoff

Journal:

Pediatric Radiology

Year:

2007

File:

PDF, 38 KB

2007

10

Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria

Guido F. Laube, James V. Leonard, William G. van't Hoff

Journal:

Pediatric Nephrology

Year:

2003

Language:

english

File:

PDF, 131 KB

english, 2003

11

Neonatal nephrocalcinosis in association with glucose-galactose malabsorption

Amitava Pahari, Peter J. Milla, William G. van't Hoff

Journal:

Pediatric Nephrology

Year:

2003

Language:

english

File:

PDF, 137 KB

english, 2003

12

The use of steroid-sparing agents in steroid-sensitive nephrotic syndrome

Asiri S. Abeyagunawardena, Michael J. Dillon, Lesley Rees, William van't Hoff, Richard S. Trompeter

Journal:

Pediatric Nephrology

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

13

Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome

Guido F. Laube, Mushfequr R. Haq, William G. van’t Hoff

Journal:

Pediatric Nephrology

Year:

2005

Language:

english

File:

PDF, 306 KB

english, 2005

14

Childhood thin GBM disease: review of 22 children with family studies and long-term follow-up

Carla Carasi, William G. Van’t Hoff, Lesley Rees, R. Anthony Risdon, Richard S. Trompeter, Michael J. Dillon

Journal:

Pediatric Nephrology

Year:

2005

Language:

english

File:

PDF, 166 KB

english, 2005

15

An association of tubular dysfunction, cortical macrocysts and chronic kidney disease

Detlef Bockenhauer, Lesley Rees, William van’t Hoff

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

16

Glutathione depletion and increased apoptosis rate in human cystinotic proximal tubular cells

Guido F. Laube, Vanita Shah, Victoria C. Stewart, Iain P. Hargreaves, Mushfequr R. Haq, Simon J. R. Heales, William G. van’t Hoff

Journal:

Pediatric Nephrology

Year:

2006

Language:

english

File:

PDF, 132 KB

english, 2006

17

Predictors of long-term outcome of children with idiopathic focal segmental glomerulosclerosis

Asiri S. Abeyagunawardena, Neil J. Sebire, R. Anthony Risdon, Michael J. Dillon, Lesley Rees, William van’t Hoff, Pallegoda V. Kumarasiri, Richard S. Trompeter

Journal:

Pediatric Nephrology

Year:

2007

Language:

english

File:

PDF, 136 KB

english, 2007

18

A fatal case of cerebral oedema with hyponatraemia and massive polyuria after renal transplantation

Janette Cansick, Lesley Rees, Geoff Koffman, William Van’t Hoff, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 82 KB

english, 2009

19

Membranoproliferative glomerulonephritis associated with a mutation in Wilms’ tumour suppressor gene 1

Detlef Bockenhauer, William van’t Hoff, Gil Chernin, Saskia F. Heeringa, Neil J. Sebire

Journal:

Pediatric Nephrology

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

20

A patient with polyuria and hydronephrosis: question

Graciana Jaureguiberry, William van’t Hoff, Imran Mushtaq, Divyesh Desai, Nicholas P. Mann, Robert Kleta, Daniel G. Bichet, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 94 KB

english, 2011

21

A patient with polyuria and hydronephrosis: answer

Graciana Jaureguiberry, William van’t Hoff, Imran Mushtaq, Divyesh Desai, Nicholas P. Mann, Robert Kleta, Daniel G. Bichet, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

22

Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome

Joanna Kenny, Melissa M. Lees, Susan Drury, Angela Barnicoat, William van’t Hoff, Rodger Palmer, Deborah Morrogh, Jonathan J. Waters, Nicholas J. Lench, Detlef Bockenhauer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 247 KB

english, 2011

23

Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatment

Catherine Quinlan, Katie Guegan, Amaka Offiah, Richard O’ Neill, Melanie P. Hiorns, Sian Ellard, Detlef Bockenhauer, William Van’t Hoff, Aoife M. Waters

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 206 KB

english, 2012

24

Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children

Mary B. McBride, Sue Rigden, George B. Haycock, Neil Dalton, William Van’t Hoff, Lesley Rees, G. Venkat Raman, Fernando Moro, Chisholm S. Ogg, J. Stewart Cameron, H. Anne Simmonds

Journal:

Pediatric Nephrology

Year:

1998

Language:

english

File:

PDF, 197 KB

english, 1998

25

Abstracts of the 3rd International Cystinosis Conference 2004—Looking Forward in Cystinosis

William Van't Hoff

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 413 KB

english, 2005

26

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

McDowell, Geraldine A., Gahl, William A., Stephenson, Leah A., Schneider, Jerry A., Weissenbach, Jean, Polymeropoulos, Mihael H., Town, Margaret M., van't Hoff, William, Farrall, Martin, Mathew, Chris

Journal:

Nature Genetics

Year:

1995

File:

PDF, 227 KB

1995

27

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Dorothy A. Thompson, Sally Feather, Horia C. Stanescu, Bernard Freudenthal, Anselm A. Zdebik, Richard Warth, Milos Ognjanovic, Sally A. Hulton, Evangeline Wassmer, William van't Hoff, Isabelle Russell

Journal:

The Journal of Physiology

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

28

Fine Mapping of the Cystinosis Gene Using an Integrated Genetic and Physical Map of a Region within Human Chromosome Band 17p13

Geraldine McDowell, Takao Isogai, Akira Tanigami, Senator Hazelwood, David Ledbetter, Mihael H. Polymeropoulos, Uta Lichter-Konecki, David Konecki, Margaret M. Town, William Van’t Hoff, Jean Weissenba

Journal:

Biochemical and Molecular Medicine

Year:

1996

Language:

english

File:

PDF, 110 KB

english, 1996

29

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involvingEYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1

Rickard, Sarah, van't Hoff, William, Barnicoat, Angela, Russell-Eggitt, Isabelle, Winter, Robin, Bitner-Glindzicz, Maria, Parker, Michael

Journal:

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

30

A Family With Hyponatremia and the Nephrogenic Syndrome of Inappropriate Antidiuresis

Detlef Bockenhauer, Michael D. Penney, David Hampton, William van't Hoff, Ambrose Gullett, Sankar Sailesh, Daniel G. Bichet

Journal:

American Journal of Kidney Diseases

Year:

2012

Language:

english

File:

PDF, 311 KB

english, 2012

31

Renal tubular disorders

Jo Dehoorne, William van’t Hoff

Journal:

Current Paediatrics

Year:

2003

Language:

english

File:

PDF, 157 KB

english, 2003

32

Urinary supersaturation of calcium oxalate and phosphate in patients with X-linked hypophosphatemic rickets and in healthy schoolchildren

Ludwig Patzer, William van't Hoff, Vanita Shah, Peter Hallson, G.P. Kasidas, Colin Samuell, Rose de Bruyn, T.Martin Barratt, Michael J. Dillon

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 69 KB

english, 1999

33

Renal tubular disorders

William van't Hoff

Journal:

Current Paediatrics

Year:

1997

Language:

english

File:

PDF, 1.35 MB

english, 1997

34

X-linked hypophosphataemic rickets: Recognition, treatment and prognosis

Ludwig Patzer, William van't Hoff, Michael J. Dillon

Journal:

Current Paediatrics

Year:

1998

Language:

english

File:

PDF, 965 KB

english, 1998

35

Long-term treatment with growth hormone in short children with nephropathic cystinosis

Elke Wühl, Dieter Haffner, G. Offner, Michel Broyer, William van’t Hoff, Otto Mehls

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 123 KB

english, 2001

36

Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

Lionel Forestier, Geneviève Jean, Marlene Attard, Stéphanie Cherqui, Cathryn Lewis, William van't Hoff, Michel Broyer, Margaret Town, Corinne Antignac

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 342 KB

english, 1999

37

Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney Disease

Coralie Bingham, Michael P. Bulman, Sian Ellard, Lisa I.S. Allen, Graham W. Lipkin, William G. van't Hoff, Adrian S. Woolf, Gianfranco Rizzoni, Giuseppe Novelli, Anthony J. Nicholls, Andrew T. Hatters

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 82 KB

english, 2001

38

10.1071/MF00075

Goldsworthy, S. D., Lewis, M., Williams, R., He, X., Young, J. W., van den Hoff, J.

Journal:

Marine and Freshwater Research

Year:

2002

Language:

english

File:

PDF, 197 KB

english, 2002

39

Self assessment

van's Hoff, William, Reid, Christopher

Journal:

Current Paediatrics

Year:

1992

Language:

english

File:

PDF, 383 KB

english, 1992

40

Self-assessment

van't Hoff, William, Reid, Christopher

Journal:

Current Paediatrics

Year:

1993

Language:

english

File:

PDF, 889 KB

english, 1993

41

Femoral nerve injury following inguinal hernia repair

van Hoff, Jack, Shaywitz, Bennett A., Seashore, John H., Collins, William F.

Journal:

Pediatric Neurology

Year:

1985

Language:

english

File:

PDF, 195 KB

english, 1985

42

CAFFEINE IN PREGNANCY

Van't Hoff, William

Journal:

Year:

1982

Language:

english

File:

PDF, 162 KB

english, 1982

43

Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years

Kari, Jameela A., Montini, Giovanni, Bockenhauer, Detlef, Brennan, Eileen, Rees, Lesley, Trompeter, Richard S., Tullus, Kjell, van’t Hoff, William, Waters, Aoife, Ashton, Emma, Lench, Nicholas, Sebire

Journal:

Pediatric Nephrology

Year:

2014

Language:

english

File:

PDF, 195 KB

english, 2014

44

Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas

Smith, Miriam J, Wallace, Andrew J, Bennett, Chris, Hasselblatt, Martin, Elert-Dobkowska, Ewelina, Evans, Linton T, Hickey, William F, van Hoff, Jack, Bauer, David, Lee, Amy, Hevner, Robert F, Beetz,

Journal:

The Journal of Pathology

Year:

2014

Language:

english

File:

PDF, 3.15 MB

english, 2014

45

Iontophoretic Transdermal Sampling of Iohexol as a Non-Invasive Tool to Assess Glomerular Filtration Rate

Djabri, Asma, van’t Hoff, William, Brock, Penelope, Wong, Ian C. K., Guy, Richard H., Delgado-Charro, M. Begoña

Journal:

Pharmaceutical Research

Year:

2015

Language:

english

File:

PDF, 503 KB

english, 2015

46

NIHR Medicines for Children Research Network: improving children’s health through clinical research

Rose, Andrew C, van’t Hoff, William, Beresford, Michael W, Tansey, Susan P

Journal:

Expert Review of Clinical Pharmacology

Year:

2013

Language:

english

File:

PDF, 595 KB

english, 2013

47

Bi-allelicCLPBmutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

Kanabus, Marta, Shahni, Rojeen, Saldanha, José W., Murphy, Elaine, Plagnol, Vincent, Hoff, William Van’t, Heales, Simon, Rahman, Shamima

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 1.81 MB

english, 2015

48

Hypervitaminosis A is prevalent in children with CKD and contributes to hypercalcemia

Manickavasagar, Baheerathi, McArdle, Andrew J., Yadav, Pallavi, Shaw, Vanessa, Dixon, Marjorie, Blomhoff, Rune, Connor, Graeme O’, Rees, Lesley, Ledermann, Sarah, van’t Hoff, William, Shroff, Rukshana

Journal:

Pediatric Nephrology

Year:

2015

Language:

english

File:

PDF, 849 KB

english, 2015

49

Aetiological Factors in Paediatric Urolithiasis

van&rsquo, t Hoff, William G.

Journal:

Nephron Clinical Practice

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

50

Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease

Rossetti, Sandro, Kubly, Vickie J, Consugar, Mark B, Hopp, Katharina, Roy, Sushmita, Horsley, Sharon W, Chauveau, Dominique, Rees, Lesley, Barratt, T Martin, van't Hoff, William G, Niaudet, W Patrick,

Journal:

Kidney International

Year:

2009

Language:

english

File:

PDF, 397 KB

english, 2009