Anand K. Saggar: search on 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:

Year:

2003

Language:

english

File:

PDF, 106 KB

english, 2003

2

Potassium Supplements and Potassium-Sparing Diuretics

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

Journal:

Year:

1993

Language:

english

File:

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

Year:

2000

Language:

english

File:

PDF, 164 KB

english, 2000

4

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

Year:

2009

Language:

english

File:

PDF, 518 KB

english, 2009

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

Year:

2003

Language:

english

File:

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

Year:

2000

Language:

english

File:

PDF, 417 KB

english, 2000

7

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

Year:

1998

Language:

english

File:

PDF, 3.31 MB

english, 1998

8

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

Year:

2005

Language:

english

File:

PDF, 158 KB

english, 2005

9

Consanguinity and child health

Anand K. Saggar, Alan H. Bittles

Journal:

Paediatrics and Child Health

Year:

2008

Language:

english

File:

PDF, 741 KB

english, 2008

10

Erratum to: Potassium Supplements and Potassium-Sparing Diuretics

Anand K. Saggar-Malik,Francesco P. Cappuccio

Journal:

Year:

1994

Language:

english

File:

PDF, 183 KB

english, 1994

11

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:

Year:

2014

Language:

english

File:

PDF, 264 KB

english, 2014

12

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

Year:

2008

Language:

english

File:

PDF, 96 KB

english, 2008

13

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

Year:

2011

Language:

english

File:

PDF, 468 KB

english, 2011

14

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

Year:

2006

Language:

english

File:

PDF, 153 KB

english, 2006

15

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:

Year:

2017

Language:

english

File:

PDF, 907 KB

english, 2017

16

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

Year:

2011

Language:

english

File:

PDF, 3.10 MB

english, 2011

17

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:

Year:

2010

Language:

english

File:

PDF, 135 KB

english, 2010

18

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

Year:

2007

Language:

english

File:

PDF, 665 KB

english, 2007

19

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

Year:

2009

Language:

english

File:

PDF, 27 KB

english, 2009

20

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

Year:

2020

File:

PDF, 1.10 MB

2020

21

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

Year:

2017

Language:

english

File:

PDF, 419 KB

english, 2017

22

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

Year:

2012

Language:

english

File:

PDF, 351 KB

english, 2012

23

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

Year:

2000

Language:

english

File:

PDF, 110 KB

english, 2000

24

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

Year:

2015

Language:

english

File:

PDF, 4.84 MB

english, 2015

25

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

Year:

2015

Language:

english

File:

PDF, 369 KB

english, 2015

26

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

Year:

2017

Language:

english

File:

PDF, 622 KB

english, 2017

27

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

Year:

2002

Language:

english

File:

PDF, 515 KB

english, 2002

28

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

Year:

1993

Language:

english

File:

PDF, 412 KB

english, 1993

29

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

Year:

2017

Language:

english

File:

PDF, 1.30 MB

english, 2017

30

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:

Year:

1999

Language:

english

File:

PDF, 88 KB

english, 1999

31

Ocular Treatment of Children With Stuve–Wiedemann Syndrome

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

Journal:

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

32

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

Year:

1995

Language:

english

File:

PDF, 350 KB

english, 1995

33

[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

File:

PDF, 42 KB

34

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:

Year:

2007

Language:

english

File:

PDF, 268 KB

english, 2007

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