Saggar, Anand K. : rechercher sur Z-Library

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1

Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype

Sandro Rossetti, Dominique Chauveau, Vickie Kubly, Jeffrey M Slezak, Anand K Saggar-Malik, York Pei, Albert CM Ong, Fiona Stewart, Michael L Watson, Erik J Bergstralh, Christopher G Winearls, Vicente

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 106 KB

english, 2003

2

Potassium Supplements and Potassium-Sparing Diuretics

Anand K. Saggar-Malik,Dr Francesco P. Cappuccio

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 3.81 MB

english, 1993

3

Novel Mutations in the Duplicated Region of the Polycystic Kidney Disease 1 ( PKD1 ) Gene Provides Supporting Evidence for Gene Conversion

Afzal, Ali R., Florêncio, Rodrigo N., Taylor, Rohan, Patton, Michael A., Saggar-Malik, Anand, Jeffery, Steve

Journal:

Genetic Testing

Année:

2000

Langue:

english

Fichier:

PDF, 164 KB

english, 2000

4

Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients

Jose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, Anand Saggar, Ken K Nischal, Paolo Comeglio, Aman Chandra, Anne H Child, Gavin Arno

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 135 KB

english, 2010

5

Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)

Whittock, Neil V., Izatt, Louise, Mann, Anuska, Homfray, Tessa, Bennett, Christopher, Mansour, Sahar, Hurst, Jane, Fryer, Alan, Saggar, Anand K., Barwell, Julian G., Ellard, Sian, Clayton, Peter T.

Journal:

The Journal of Investigative Dermatology

Année:

2003

Langue:

english

Fichier:

PDF, 402 KB

english, 2003

6

Location of mutations within the PKD2 gene influences clinical outcome

Hateboer, Nick, Veldhuisen, Barbera, Peters, Dorien, Breuning, Martijn H, San-Millán, José L, Bogdanova, Nadja, Coto, Eliecer, Dijk, Marjan A V, Afzal, Ali R, Jeffery, Steve, Saggar-Malik, Anand K, To

Journal:

Kidney International

Année:

2000

Langue:

english

Fichier:

PDF, 417 KB

english, 2000

7

A complete mutation screen of the ADPKD genes by DHPLC

Rossetti, Sandro, Chauveau, Dominique, Walker, Denise, Saggar-Malik, Anand, Winearls, Christopher G., Torres, Vicente E., Harris, Peter C.

Journal:

Kidney International

Année:

2002

Langue:

english

Fichier:

PDF, 515 KB

english, 2002

8

Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1)

Steve Jeffery, Anand K Saggar-Malik, Demetrios L Economides, Sally E Blackmore, Kay D MacDermot

Journal:

Clinical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 3.31 MB

english, 1998

9

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

Dunlop, Elaine A, Dodd, Kayleigh M, Land, Stephen C, Davies, Peter A, Martins, Nicole, Stuart, Helen, McKee, Shane, Kingswood, Chris, Saggar, Anand, Corderio, Isabel

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 468 KB

english, 2011

10

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Griffith, Elen, Walker, Sarah, Martin, Carol-Anne, Vagnarelli, Paola, Stiff, Tom, Vernay, Bertrand, Sanna, Nouriya Al, Saggar, Anand, Hamel, Ben, Earnshaw, William C

Journal:

Nature Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 665 KB

english, 2007

11

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes

Holmkvist, Johan, Almgren, Peter, Parikh, Hemang, Zucchelli, Marco, Kere, Juha, Groop, Leif, Saggar-Malik., Anand

Journal:

European Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 158 KB

english, 2005

12

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 518 KB

english, 2009

13

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 27 KB

english, 2009

14

A family with autosomal dominant polycystic kidney disease not linked to chromosome 16p13.3

Steve Jeffery, Anand K. Saggar-Malik, Steve Morgan, Graham A. MacGregor

Journal:

Clinical Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 412 KB

english, 1993

15

Comparison of phenotypes of polycystic kidney disease types 1 and 2

Nick Hateboer, Marjan A v Dijk, Nadja Bogdanova, Eliecer Coto, Anand K Saggar-Malik, Jose L San Millan, Roser Torra, Martijn Breuning, David Ravine

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 88 KB

english, 1999

16

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart, Wesley J. Woollard, Frances V. Elmslie, Muriel Holder-Espinasse, Melita Irving, Anand K. Saggar, Sarah Smithson, Richard C. Trembath, Charu Deshpande,

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 351 KB

english, 2012

17

Consanguinity and child health

Anand K. Saggar, Alan H. Bittles

Journal:

Paediatrics and Child Health

Année:

2008

Langue:

english

Fichier:

PDF, 741 KB

english, 2008

18

Erratum to: Potassium Supplements and Potassium-Sparing Diuretics

Anand K. Saggar-Malik,Francesco P. Cappuccio

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 183 KB

english, 1994

19

Lack of Association of ACE /Angiotensinogen Genotype with Renal Function in Autosomal Dominant Polycystic Kidney Disease

Saggar-Malik, Anand K., Afzal, Ali Reza, Swissman, Josh S., Bland, Martin, Sagnella, Guiseppe A., Eastwood, John B., MacGregor, Graham A., Jeffery, Steve

Journal:

Genetic Testing

Année:

2000

Langue:

english

Fichier:

PDF, 110 KB

english, 2000

20

Zellweger syndrome and secondary mitochondrial myopathy

Salpietro, Vincenzo, Phadke, Rahul, Saggar, Anand, Hargreaves, Iain P., Yates, Robert, Fokoloros, Christos, Mankad, Kshitij, Hertecant, Jozef, Ruggieri, Martino, McCormick, David, Kinali, Maria

Journal:

European Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 4.84 MB

english, 2015

21

Identification of people with autosomal dominant polycystic kidney disease using routine data: a cross sectional study

McGovern, Andrew P, Jones, Simon, van Vlymen, Jeremy, Saggar, Anand K, Sandford, Richard, de Lusignan, Simon

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 264 KB

english, 2014

22

Sirolimus Therapy in Tuberous Sclerosis or Sporadic Lymphangioleiomyomatosis

Davies, D. Mark, Johnson, Simon R., Tattersfield, Anne E., Kingswood, J. Chris, Cox, Jane A., McCartney, Deborah L., Doyle, Tim, Elmslie, Frances, Saggar, Anand, de Vries, Petrus J., Sampson, Julian R

Journal:

Boston Medical and Surgical Journal

Année:

2008

Langue:

english

Fichier:

PDF, 96 KB

english, 2008

23

Whole exome sequencing reveals aMLL de novomutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome

STEEL, DORA, SALPIETRO, VINCENZO, PHADKE, RAHUL, PITT, MATTHEW, GENTILE, GIULIA, MASSOUD, AHMED, BATTEN, LEIGH, BASHAMBOO, ANU, MCELREAVEY, KEN, SAGGAR, ANAND, KINALI, MARIA

Journal:

Journal of Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 369 KB

english, 2015

24

VASOREACTIVITY WITH INHALED NITRIC OXIDE AND 100% OXYGEN IN PATIENT'S WITH IDIOPATHIC PULMONARY FIBROSIS AND PULMONARY ARTERIAL HYPERTENSION

Anand, Wayneinder S., Shapiro, Shelley, Saggar, Rajeev, Saggar, Rajan, Belperio, John A., Lynch, Joseph P., Zisman, David A.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 268 KB

english, 2007

25

The effect of sodium and angiotensin-converting enzyme inhibition on the classic circulating renin–angiotensin system in autosomal-dominant polycystic kidney disease patients

Doulton, Timothy W, Saggar-Malik, Anand K, He, Feng J, Carney, Christine, Markandu, Nirmala D, Sagnella, Guiseppe A, MacGregor, Graham A

Journal:

Journal of Hypertension

Année:

2006

Langue:

english

Fichier:

PDF, 153 KB

english, 2006

26

Ocular Treatment of Children With Stuve–Wiedemann Syndrome

Injarie, Anas M, Narang, Aman, Idrees, Zubair, Saggar, Anand K, Nischal, Ken K

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 239 KB

english, 2012

27

Multidisciplinary Surgical Management of Cherubism Complicated by Neurofibromatosis Type 1

Hachach-Haram, Nadine, Gerarchi, Paul, Benyon, Sarah L., Saggar, Anand, McLellan, Guy, Kirkpatrick, W. Niall A.

Journal:

Journal of Craniofacial Surgery

Année:

2011

Langue:

english

Fichier:

PDF, 3.10 MB

english, 2011

28

Localisation and characterisation of carbonic anhydrase isozymes (CA I. CA II. CA III and CA IV) in an umbilical vein endothelial cell line (EA-hy926)

MAHIEU, ISABELLE, SAGGAR-MALIK, ANAND, HOLLANDE, ETIENNE, CARTER, NICK

Journal:

Biochemical Society Transactions

Année:

1995

Langue:

english

Fichier:

PDF, 350 KB

english, 1995

29

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Kharbanda, Mira, Pilz, Daniela T., Tomkins, Susan, Chandler, Kate, Saggar, Anand, Fryer, Alan, McKay, Victoria, Louro, Pedro, Smith, Jill Clayton, Burn, John, Kini, Usha, De Burca, Anna, FitzPatrick,

Journal:

European Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 622 KB

english, 2017

30

A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding

Pavlidou, Efterpi, Ramachandran, Vijaya, Govender, Veronica, Wilson, Clare, Das, Rini, Vlachou, Victoria, Pavlou, Evangelos, Saggar, Anand, Mankad, Kshitij, Kinali, Maria

Journal:

Brain and Development

Année:

2017

Langue:

english

Fichier:

PDF, 419 KB

english, 2017

31

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

Salpietro, Vincenzo, Lin, Weichun, Vedove, Andrea Delle, Storbeck, Markus, Liu, Yun, Efthymiou, Stephanie, Manole, Andreea, Wiethoff, Sarah, Ye, Qiaohong, Saggar, Anand, McElreavey, Kenneth, Krishnaku

Journal:

Annals of Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 1.30 MB

english, 2017

32

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Alcantara, Diana, Timms, Andrew E., Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G., Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, O

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 907 KB

english, 2017

33

Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

Perrino, Peter A., Talbot, Lidiya, Kirkland, Rose, Hill, Amanda, Rendall, Amanda R., Mountford, Hayley S., Taylor, Jenny, Buscarello, Alexzandrea N., Lahiri, Nayana, Saggar, Anand, Fitch, R. Holly, Ne

Journal:

Communications Biology

Année:

2020

Fichier:

PDF, 1.10 MB

2020

34

[BMJ Publishing Group Ltd and British Cardiovascular Society BSCI & BSCCT 2019 abstracts - ()] Abstracts - 1âImaging cardiovascular features of a family with type 4 loeys-dietz syndrome

Budaj, Irilda, Gupta, Prity, Saggar, Anand, Nienaber, Christopher, Morris-Rosendahl, Deborah, Mirsadraee, Saeed

Fichier:

PDF, 42 KB