William G. van't Hoff: search on Z-Library

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1

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

2

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

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

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

6

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

7

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

8

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

9

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

10

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

11

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

12

Long-term outcome in inherited nephrogenic diabetes insipidus

Sharma, Sonia, Ashton, Emma, Iancu, Daniela, Arthus, Marie-Francoise, Hayes, Wesley, van’t Hoff, William, Kleta, Robert, Bichet, Daniel G, Bockenhauer, Detlef

Journal:

Clinical Kidney Journal

Year:

2018

Language:

english

File:

PDF, 403 KB

english, 2018

13

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

14

Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay

de Vries, Bert B. A., van't Hoff, William G., Surtees, Robert A. H., Winter, Robin M.

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 242 KB

english, 2001

15

Methanol and its Relation to the Water Snowline in the Disk around the Young Outbursting Star V883 Ori

van ’t Hoff, Merel L. R., Tobin, John J., Trapman, Leon, Harsono, Daniel, Sheehan, Patrick D., Fischer, William J., Megeath, S. Thomas, van Dishoeck, Ewine F.

Journal:

The Astrophysical Journal

Year:

2018

Language:

english

File:

PDF, 1.44 MB

english, 2018

16

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

17

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

18

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

19

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

20

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

21

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

22

The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3

Williams, E. L., Bockenhauer, D., van't Hoff, W. G., Johri, N., Laing, C., Sinha, M. D., Unwin, R., Viljoen, A., Rumsby, G.

Journal:

Nephrology Dialysis Transplantation

Year:

2012

Language:

english

File:

PDF, 127 KB

english, 2012

23

A randomised Phase I/II trial to evaluate the efficacy and safety of orally administeredOxalobacter formigenesto treat primary hyperoxaluria

Hoppe, Bernd, Niaudet, Patrick, Salomon, Rémi, Harambat, Jérôme, Hulton, Sally-Anne, Van’t Hoff, William, Moochhala, Shabbir H., Deschênes, Georges, Lindner, Elisabeth, Sjögren, Anna, Cochat, Pierre

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 423 KB

english, 2017

24

LB002ILLUMINATE-A, A PHASE 3 STUDY OF LUMASIRAN, AN INVESTIGATIONAL RNAI THERAPEUTIC, IN CHILDREN AND ADULTS WITH PRIMARY HYPEROXALURIA TYPE 1 (PH1)

Garrelfs, Sander, Frishberg, Yaacov, Hulton, Sally, Koren, Michael, O'Riordan, William, Cochat, Pierre, Deschenes, Georges, Shasha-Lavsky, Hadas, Saland, Jeffrey, Van't Hoff, William, Fuster, Daniel G

Journal:

Nephrology Dialysis Transplantation

Year:

2020

File:

PDF, 91 KB

2020

25

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

26

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

27

Renal tubular disorders

William van't Hoff

Journal:

Current Paediatrics

Year:

1997

Language:

english

File:

PDF, 1.35 MB

english, 1997

28

[American Society of Agricultural and Biological Engineers 2007 Minneapolis, Minnesota, June 17-20, 2007 - ()] 2007 Minneapolis, Minnesota, June 17-20, 2007 - Novel Treatment of odor and VOCs Using Photolysis

Xiuyan Yang,, Jacek A Koziel,, Lingshuang Cai,, Steven Hoff,, Jay Harmon,, Hans van Leeuwen,, William S.,, Jenks,, Jeffrey J,, Zimmerman,, Tim Cutler,

Year:

2007

File:

PDF, 477 KB

2007

29

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

30

Primary hyperoxaluria type 3 in children with renal calculi

Williams, E., Bockenhauer, D., Smeulders, N., Barnacle, A., Choong, S., Rumsby, G., van't Hoff, W.

Journal:

Archives of Disease in Childhood

Year:

2011

Language:

english

File:

PDF, 82 KB

english, 2011

31

Treatment with Recombinant Human Growth Hormone in Short Children with Nephropathic Cystinosis: No Evidence for Increased Deterioration Rate of Renal Function

WÃ¼hl, Elke, Haffner, Dieter, Gretz, Norbert, Offner, Gisela, Van't Hoff, William G, Broyer, Michel, Mehls, Otto

Journal:

Pediatric Research

Year:

1998

File:

PDF, 97 KB

1998

32

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

33

Epidemiology of paediatric renal stone disease: a 22-year single centre experience in the UK

Issler, Naomi, Dufek, Stephanie, Kleta, Robert, Bockenhauer, Detlef, Smeulders, Naima, van‘t Hoff, William

Journal:

Year:

2017

Language:

english

File:

PDF, 499 KB

english, 2017

34

Erratum to: Clinical and molecular aspects of distal renal tubular acidosis in children

Besouw, Martine T. P., Bienias, Marc, Walsh, Patrick, Kleta, Robert, van’t Hoff, William G., Ashton, Emma, Jenkins, Lucy, Bockenhauer, Detlef

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 179 KB

english, 2017

35

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

36

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

37

An institutional experience of pre-emptive liver transplantation for pediatric primary hyperoxaluria type 1

Khorsandi, Shirin Elizabeth, Samyn, Marianne, Hassan, Akhila, Vilca-Melendez, Hector, Waller, Simon, Shroff, Rukshana, Koffman, Geoff, Van't Hoff, William, Baker, Alastair, Dhawan, Anil, Heaton, Nigel

Journal:

Pediatric Transplantation

Year:

2016

Language:

english

File:

PDF, 209 KB

english, 2016

38

TO029EPIDEMIOLOGY OF PAEDIATRIC UROLITHIASIS IN A LARGE COHORT IN UK

Dufek, Stephanie, Issler, Naomi, Kleta, Robert, Bockenhauer, Detlef, Smeulders, Naima, van't Hoff, William

Journal:

Nephrology Dialysis Transplantation

Year:

2016

Language:

english

File:

PDF, 58 KB

english, 2016

39

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

40

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

41

SMARCE1 mutations in pediatric clear cell meningioma: case report

Evans, Linton T., Van Hoff, Jack, Hickey, William F., Smith, Miriam J., Evans, D. Gareth, Newman, William G., Bauer, David F.

Journal:

Journal of Neurosurgery Pediatrics

Year:

2015

Language:

english

File:

PDF, 4.91 MB

english, 2015

42

Hypercalciuria in children with decreased muscle mass—urine calcium : osmolality versus urine calcium : creatinine

van't Hoff, William G

Journal:

Nature Clinical Practice Nephrology

Year:

2006

Language:

english

File:

PDF, 93 KB

english, 2006

43

Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV

Plumb, Lucy Anne, van't Hoff, William, Kleta, Robert, Reid, Chris, Ashton, Emma, Samuels, Martin, Bockenhauer, Detlef

Journal:

Year:

2016

Language:

english

File:

PDF, 104 KB

english, 2016

44

[American Society of Agricultural and Biological Engineers 2008 Providence, Rhode Island, June 29 - July 2, 2008 - ()] 2008 Providence, Rhode Island, June 29 - July 2, 2008 - Treatment of Livestock Odor and Pathogens with Ultraviolet Light

Xiuyan Yang,, Jacek A Koziel,, Tim Cutler,, Hans van Leeuwen,, Shicheng Zhang,, Steven J Hoff,, William Jenks,, Jeffrey Zimmerman,

Year:

2008

File:

PDF, 225 KB

2008

45

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

46

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

47

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

48

Self-assessment

van't Hoff, William, Reid, Christopher

Journal:

Current Paediatrics

Year:

1993

Language:

english

File:

PDF, 889 KB

english, 1993

49

Tolvaptan is successful in treating inappropriate antidiuretic hormone secretion in infants

Marx-Berger, Daniela, Milford, David V, Bandhakavi, Meenakshi, van't Hoff, William, Kleta, Robert, Dattani, Mehul, Bockenhauer, Detlef

Journal:

Acta Paediatrica

Year:

2016

Language:

english

File:

PDF, 89 KB

english, 2016

50

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

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