Sandra S. Strautnieks‡ : rechercher sur Z-Library

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1

Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency

Dr. Mendel Tuchman, Ichiro Matsuda, Arnold Munnich, Sue Malcolm, Sandra Strautnieks, Trevor Briede

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 469 KB

english, 1995

2

Characterization of mutations in ATP8B1 associated with hereditary cholestasis

Leo W. J. Klomp, Julie C. Vargas, Saskia W. C. van Mil, Ludmila Pawlikowska, Sandra S. Strautnieks, Michiel J. T. van Eijk, Jenneke A. Juijn, Carlos Pabón-Peña, Lauren B. Smith, Joseph A. DeYoung, Jan

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 631 KB

english, 2004

3

Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency

A. S. Knisely, Sandra S. Strautnieks, Yvonne Meier, Bruno Stieger, Jane A. Byrne, Bernard C. Portmann, Laura N. Bull, Ludmila Pawlikowska, Banu Bilezikçi, Figen Özçay, Aranka László, László Tiszlavicz

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 697 KB

english, 2006

4

Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing

Jane A. Byrne, Sandra S. Strautnieks, Gudrun Ihrke, Franco Pagani, A.S. Knisely, Kenneth J. Linton, Giorgina Mieli-Vergani, Richard J. Thompson

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 818 KB

english, 2009

5

Recurrent low gamma-glutamyl Transpeptidase cholestasis following liver transplantation for bile salt export pump (BSEP) disease (posttransplant recurrent BSEP disease)

Leah Siebold, Andre A. S. Dick, Richard Thompson, Giuseppe Maggiore, Emanuel Jacquemin, Ronald Jaffe, Sandra Strautnieks, Tassos Grammatikopoulos, Simon Horslen, Peter F. Whitington, Benjamin L. Shnei

Journal:

Liver Transplantation

Année:

2010

Langue:

english

Fichier:

PDF, 1.19 MB

english, 2010

6

Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion

Karan M Emerick, Marc S Elias, Hector Melin-Aldana, Sandra Strautnieks, Richard J Thompson, Laura N Bull, AS Knisely, Peter F Whitington, Richard M Green

Journal:

BMC Gastroenterology

Année:

2008

Langue:

english

Fichier:

PDF, 646 KB

english, 2008

7

10.1038/3034

Thompson, Richard J., Strautnieks, Sandra S., Bull, Laura N., Knisely, Alexander S., Kocoshis, Samuel A., Dahl, Niklas, Arnell, Henrik, Sokal, Etienne, Dahan, Karine, Childs, Sarah, Ling, Victor, Tann

Journal:

Nature Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 163 KB

english, 1998

8

A novel spice–site mutation in the γ subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families

Strautnieks, Sandra S., Thompson, Richard J., Gardiner, R. Mark, Chung, Eddie

Journal:

Nature Genetics

Année:

1996

Fichier:

PDF, 384 KB

1996

9

Gene Structure of the Human Amiloride-Sensitive Epithelial Sodium Channel Beta Subunit

Anjana Saxena, Israel Hanukoglu, Sandra S. Strautnieks, Richard J. Thompson, R.Mark Gardiner, Aaron Hanukoglu

Journal:

Biochemical and Biophysical Research Communications

Année:

1998

Langue:

english

Fichier:

PDF, 120 KB

english, 1998

10

Differences in presentation and progression between severe FIC1 and BSEP deficiencies

Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, Piotr Czubkowski, Karan Emerick, Anthony Antoniou, Catherine Wanty, Bjorn Fischler, Emmanuel Jacquemin, Sami Wali, Samra Blanchard, Inge-Meret

Journal:

Journal of Hepatology

Année:

2010

Langue:

english

Fichier:

PDF, 889 KB

english, 2010

11

VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype

Laura N. Bull, Venus Mahmoodi, Alastair J. Baker, Rosamond Jones, Sandra S. Strautnieks, Richard J. Thompson, A.S. Knisely

Journal:

The Journal of Pediatrics

Année:

2006

Langue:

english

Fichier:

PDF, 178 KB

english, 2006

12

Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy

Jacqueline Allotey, Florence Lacaille, Melissa M. Lees, Sandra Strautnieks, Richard J. Thompson, Mark Davenport

Journal:

Journal of Pediatric Surgery

Année:

2008

Langue:

english

Fichier:

PDF, 128 KB

english, 2008

13

Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans

Patricia B Munroe, Sandra S Strautnieks, Martin Farrall, Harold I Daniel, Mary Lawson, Perry DeFreitas, Paul Fogarty, R.Mark Gardiner, Mark Caulfield

Journal:

American Journal of Hypertension

Année:

1998

Langue:

english

Fichier:

PDF, 102 KB

english, 1998

14

Inherited disorders of transport in the liver

Richard Thompson, Sandra Strautnieks

Journal:

Current Opinion in Genetics & Development

Année:

2000

Langue:

english

Fichier:

PDF, 81 KB

english, 2000

15

Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24

Sandra S. Strautnieks, Amir F. Kagalwalla, M. Stuart Tanner, A.S. Knisely, Laura Bull, Nelson Freimer, Sam A. Kocoshis, R. Mark Gardiner, Richard J. Thompson

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 109 KB

english, 1997

16

Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis

Peter L.M. Jansen*, Sandra S. Strautnieks‡, Emmanuel Jacquemin§, Michelle Hadchouel§, Etienne M. Sokal∥, Guido J.E.J. Hooiveld*, Johan H. Koning*, Alie de Jager-Krikken*, Folkert Kuipers¶, Frans Stell

Journal:

Gastroenterology

Année:

1999

Langue:

english

Fichier:

PDF, 567 KB

english, 1999

17

Progressive familial intrahepatic cholestasis in Saudi Arabia: presence of a third locus

Anthony Antoniou, Sandra Strautnieks, Jane Byrne, Amir Kagalwalla, Alex Knisely, Nigel Heaton, Giorgina Mieli-Vergani, Sami Wali, Richard Thompson

Journal:

Journal of Hepatology

Année:

2002

Langue:

english

Fichier:

PDF, 116 KB

english, 2002

18

669 Surgical intervention outcomes in FIC1 (ATP8B1) and BSEP (ABCB11) disease

Ludmilla Pawlikowska, Sandra S. Strautnieks, Piotr Czubkowski, Anthony Antoniou, Jane Byrne, Billy Bourke, Sami Wali, S. Lobritto, Im Nielsen, S. Blanchard, Patricia McClean, H. Sharp, Phil Rosenthal,

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 114 KB

english, 2003

19

899 Investigation of the transcriptional regulation of the human bile salt export pump gene

Jane A. Byrne, Sandra S. Strautnieks, Giorgina Mieli-Vergani, Richard J. Thompson

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 150 KB

english, 2003

20

882 Familial intrahepatic cholestasis: mutation detection in the Saudi Arabian and Israeli populations

Anthony Antoniou, Sandra Strautnieks, Laura Bull, Julie Vargas, Ludmilla Pawlikowska, Jane Byrne, Cathy Hartman, H. Hebby, A. Bassas, A. Kagalwalla, Nigel Heaton, Giorgina Mieli-Vergani, R. Shamir, Sa

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 148 KB

english, 2003

21

The human bile salt export pump: Characterization of substrate specificity and identification of inhibitors

Jane A. Byrne, Sandra S. Strautnieks, Giorgina Mieli–Vergani, Christopher F. Higgins, Kenneth J. Linton, Richard J. Thompson

Journal:

Gastroenterology

Année:

2002

Langue:

english

Fichier:

PDF, 181 KB

english, 2002

22

Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity

Frank Chen, M. Ananthanarayanan, Sukru Emre, Ezequiel Neimark, Laura N. Bull, A.S. Knisely, Sandra S. Strautnieks, Richard J. Thompson, Margret S. Magid, Ronald Gordon, N. Balasubramanian, Frederick J

Journal:

Gastroenterology

Année:

2004

Langue:

english

Fichier:

PDF, 468 KB

english, 2004

23

Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

Sandra S. Strautnieks, Jane A. Byrne, Ludmila Pawlikowska, Dita Cebecauerová, Anne Rayner, Laura Dutton, Yvonne Meier, Anthony Antoniou, Bruno Stieger, Henrik Arnell, Figen Özçay, Hussa F. Al–Hussaini

Journal:

Gastroenterology

Année:

2008

Langue:

english

Fichier:

PDF, 1.68 MB

english, 2008

24

846 Mutations in Tight Junction Protein 2 Underlie a Spectrum of Cholestatic Liver Disease

Sambrotta, Melissa, Strautnieks, Sandra, Brett, Laura, Davison, Suzanne, Thompson, Richard J.

Journal:

Gastroenterology

Année:

2014

Langue:

english

Fichier:

PDF, 60 KB

english, 2014

25

Notes and News

Sambrotta, Melissa, Strautnieks, Sandra, Brett, Laura, Davison, Suzanne, Thompson, Richard J.

Journal:

Année:

1956

Langue:

english

Fichier:

PDF, 398 KB

english, 1956

26

Mutations in TJP2 cause progressive cholestatic liver disease

Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E, Parry, David A, Logan, Clare V, Newbury, Lucy J, Kamath, Binita M, Ling, Simon, Grammatikopoulos, Tassos, W

Journal:

Nature Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 468 KB

english, 2014

27

Case Report: Multiple beta-catenin mutations in hepatocellular lesions arising in Abernethy Malformation

Sorkin, Tracy, Strautnieks, Sandra, Foskett, Pierre, Peddu, Praveen, Thompson, Richard J., Heaton, Nigel, Quaglia, Alberto

Journal:

Human Pathology

Année:

2016

Langue:

english

Fichier:

PDF, 521 KB

english, 2016

28

Pigmented well-differentiated hepatocellular neoplasm with β-catenin mutation

Souza, Lara Neves, de Martino, Rodrigo Bronze, Thompson, Richard, Strautnieks, Sandra, Heaton, Nigel D, Quaglia, Alberto

Journal:

Hepatobiliary & Pancreatic Diseases International

Année:

2015

Langue:

english

Fichier:

PDF, 4.59 MB

english, 2015

29

Exocrine Pancreatic Function in Children with Progressive Familial Intrahepatic Cholestasis Type 2

Walkowiak, Jaroslaw, Jankowska, Irena, Pawlowska, Joanna, Strautnieks, Sandra, Bull, Laura, Thompson, Richard, Herzig, Karl-Heinz, Socha, Jerzy

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2006

Langue:

english

Fichier:

PDF, 67 KB

english, 2006

30

Mutations in the gene encoding the bile salt export pump are responsible for progressive familial intrahepatic cholestasis type 2

Jansen, Peter L.M., Strautnieks, Sandra, Jacquemin, Emmanuel, Hadchouel, Michelle, Sokal, Etienne M., Hooiveld, Guido J.E.J., Koning, Johan H., Kuipers, Folkert, Bijleveld, Charles M.A., Gouw, Annette

Journal:

European Journal of Gastroenterology & Hepatology

Année:

1999

Fichier:

PDF, 117 KB

1999

31

Mutations in DCDC2 (doublecortin domain-containing protein 2) in neonatal sclerosing cholangitis

Grammatikopoulos, Tassos, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Knisely, A.S., Wagner, Bart, Deheragoda, Maesha, Starling, Chris, Mieli-Vergani, Giorgina, Smith, Joshua, Bull, Laur

Journal:

Journal of Hepatology

Année:

2016

Langue:

english

Fichier:

PDF, 1.90 MB

english, 2016

32

Donor transmitted mutation of the ABCB11 gene and ensuing intra-hepatic cholestasis of pregnancy in a liver transplant recipient

Lim, Tiong Yeng, Coltart, Iona, Foskett, Pierre, Thompson, Richard, Strautnieks, Sandra, Penna, Leonie, Williamson, Catherine, Miquel, Rosa, Heneghan, Michael A.

Journal:

Liver Transplantation

Année:

2017

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2017

33

Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies

Bull, Laura N., Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Dodge, Jennifer L., Emerick, Karan, Wanty, Catherine, Wali, Sami, Blanchard, Samra, Lacaille, Florence,

Journal:

Hepatology Communications

Année:

2018

Langue:

english

Fichier:

PDF, 334 KB

english, 2018

34

Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism

Grammatikopoulos, Tassos, Deheragoda, Maesha, Strautnieks, Sandra, Neves Souza, Lara, Hinds, Rupert, Thompson, Richard J., Hadzic, Nedim

Journal:

The Journal of Pediatrics

Année:

2018

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2018

35

Mutations in Myosin 5B in Children With Early-onset Cholestasis

Cockar, Iram, Foskett, Pierre, Strautnieks, Sandra, Clinch, Yasmin, Fustok, Jana, Rahman, Obydur, Sutton, Harry, Mtegha, Marumbo, Fessatou, Smaragdi, Kontaki, Elena, Papaevangelou, Vassiliki, Deherago

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2020

Fichier:

PDF, 504 KB

2020

36

Challenges in understanding the consequences of variants in ABCB4 gene

Nayagam, Jeremy S., Strautnieks, Sandra, Joshi, Deepak, Thompson, Richard J.

Journal:

Journal of Hepatology

Année:

2020

Fichier:

PDF, 299 KB

2020