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1

Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS)

Cedric H.L. Shackleton, Josep Marcos, Glenn E. Palomaki, Wendy Y. Craig, Richard I. Kelley, Lisa E. Kratz, James E. Haddow

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 127 KB

english, 2007

2

Steroid production and excretion by the pregnant mouse, particularly in relation to pregnancies with fetuses deficient in Δ7-sterol reductase (Dhcr7), the enzyme associated with Smith–Lemli–Opitz syndrome

Xavier Matabosch, Mahbuba Rahman, Beverly Hughes, Shailendra B. Patel, Gordon Watson, Cedric Shackleton

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2009

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2009

3

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

Xavier Matabosch, Lee Ying, Montserrat Serra, Christopher A. Wassif, Forbes D. Porter, Cedric Shackleton, Gordon Watson

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2010

Langue:

english

Fichier:

PDF, 403 KB

english, 2010

4

Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome

Pasta, Saloni, Akhile, Omoye, Tabron, Dorothy, Ting, Flora, Shackleton, Cedric, Watson, Gordon

Journal:

Molecular Genetics and Metabolism Reports

Année:

2015

Langue:

english

Fichier:

PDF, 642 KB

english, 2015

5

Steroid sulphatase deficiency is the major cause of extremely low oestriol production at mid-pregnancy: a urinary steroid assay for the discrimination of steroid sulphatase deficiency from other causes

Ian A. Glass, Russell C. Lam, Tony Chang, Esther Roitman, Larry J. Shapiro, Cedric H. L. Shackleton

Journal:

Prenatal Diagnosis

Année:

1998

Langue:

english

Fichier:

PDF, 306 KB

english, 1998

6

Dehydro-oestriol and dehydropregnanetriol are candidate analytes for prenatal diagnosis of Smith-Lemli-Opitz syndrome

Cedric H. L. Shackleton, Esther Roitman, Lisa Kratz, Richard Kelley

Journal:

Prenatal Diagnosis

Année:

2001

Langue:

english

Fichier:

PDF, 94 KB

english, 2001

7

Mutations in CYP11B1 gene: Phenotype–genotype correlations

Yuan-Shan Zhu, Juan J. Cordero, Selcuk Can, Li-Qun Cai, Xueke You, Cecilia Herrera, Mariano DeFillo-Ricart, Cedric Shackleton, Julianne Imperato-McGinley

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 160 KB

english, 2003

8

Biochemical diagnosis of Antley–Bixler syndrome by steroid analysis

Cedric Shackleton, Josep Marcos, Ewa M. Malunowicz, Maria Szarras-Czapnik, Petr Jira, Norman F. Taylor, Nuala Murphy, Ellen Crushell, Michael Gottschalk, Berthold Hauffa, Deborah L. Cragun, Robert J.

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 280 KB

english, 2004

9

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley–Bixler syndrome

Deborah L. Cragun, Sharon K. Trumpy, Cedric H.L. Shackleton, Richard I. Kelley, Nancy D. Leslie, Neil P. Mulrooney, Robert J. Hopkin

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 165 KB

english, 2004

10

Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype

Cedric Shackleton, Josep Marcos, Wiebke Arlt, Berthold P. Hauffa

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 244 KB

english, 2004

11

Degradation of steroid derivatives at a gas chromatograph mass spectrometer interface

John W. Honour, Charles J. W. Brooks, Cedric H. L. Shackleton

Journal:

Biological Mass Spectrometry = Journal of Mass Spectrometry (Wiley)

Année:

1982

Langue:

english

Fichier:

PDF, 462 KB

english, 1982

12

Liquid chromatography/mass spectrometry of plasma glucose and secreted glucuronate for metabolic studies in humans

Steve Reid, Cedric Shackleton, Ken Wu, Suzanne Kaempfer, Marc K. Hellerstein

Journal:

Biological Mass Spectrometry = Journal of Mass Spectrometry (Wiley)

Année:

1990

Langue:

english

Fichier:

PDF, 478 KB

english, 1990

13

Collisionally activated dissociation and tandem mass spectrometry of intact hemoglobin β-chain variant proteins with electrospray ionization

Karen J. Light-Wahl, Joseph A. Loo, Charles G. Edmonds, Richard D. Smith, H. Ewa Witkowska, Cedric H. L. Shackleton, Chuen-Shang C. Wu

Journal:

Biological Mass Spectrometry = Journal of Mass Spectrometry (Wiley)

Année:

1993

Langue:

english

Fichier:

PDF, 846 KB

english, 1993

14

Measuring Protein Synthesis by Mass Isotopomer Distribution Analysis (MIDA)

Christina Papageorgopoulos, Kenny Caldwell, Cedric Shackleton, Hans Schweingrubber, Marc K. Hellerstein

Journal:

Analytical Biochemistry

Année:

1999

Langue:

english

Fichier:

PDF, 154 KB

english, 1999

15

Analysis of taxol and related diterpenoids from cell cultures by liquid chromatography—electrospray mass spectrometry

Francis Bitsch, Wenwen Ma, Fraser Macdonald, Matthew Nieder, Cedric H.L. Shackleton

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

1993

Langue:

english

Fichier:

PDF, 614 KB

english, 1993

16

Gas Chromatography/Mass Spectrometry Characterization of Corticosteroid Metabolism in Human Immortalized Keratinocytes

Slominski, Andrzej, Wortsman, Jacobo, Foecking, Mark F., Shackleton, Cedric, Gomez-Sanchez, Celso, Szczesniewski, Andre

Journal:

The Journal of Investigative Dermatology

Année:

2002

Langue:

english

Fichier:

PDF, 168 KB

english, 2002

17

Identifying Smith–Lemli–Opitz syndrome in conjunction with prenatal screening for Down syndrome

Wendy Y. Craig, James E. Haddow, Glenn E. Palomaki, Richard I. Kelley, Lisa E. Kratz, Cedric H. L. Shackleton, Josep Marcos, G. Stephen Tint, Andrew R MacRae, Malgorzata J. Nowaczyk, Edward M. Kloza,

Journal:

Prenatal Diagnosis

Année:

2006

Langue:

english

Fichier:

PDF, 94 KB

english, 2006

18

Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies

Josep Marcos, Wendy Y. Craig, Glenn E. Palomaki, Edward M. Kloza, James E. Haddow, Marie Roberson, Linda A. Bradley, Cedric H. L. Shackleton

Journal:

Prenatal Diagnosis

Année:

2009

Langue:

english

Fichier:

PDF, 153 KB

english, 2009

19

Prevalence of steroid sulfatase deficiency in California according to race and ethnicity

Wendy Y. Craig, Marie Roberson, Glenn E. Palomaki, Cedric H. L. Shackleton, Josep Marcos, James E. Haddow

Journal:

Prenatal Diagnosis

Année:

2010

Langue:

english

Fichier:

PDF, 84 KB

english, 2010

20

Taxoid side-chain structure determination by electrospray ionization tandem mass spectrometry

Francis Bitsch, Cedric H. L. Shackleton, Wenwen Ma, Gary Park, Matthew Nieder

Journal:

Rapid Communications in Mass Spectrometry

Année:

1993

Langue:

english

Fichier:

PDF, 342 KB

english, 1993

21

Role of a Disordered Steroid Metabolome in the Elucidation of Sterol and Steroid Biosynthesis

Cedric H. L. Shackleton

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 841 KB

english, 2012

22

Application of liquid chromatography—thermospray mass spectrometry in the analysis of glycerophospholipid molecular species

Frans A. Kuypers, Peter Bütikofer, Cedric H.L. Shackleton

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

1991

Langue:

english

Fichier:

PDF, 660 KB

english, 1991

23

Failure of Steroid Sulfatase to Desulfate Vitamin D3 Sulfate.

Epstein Jr., Ervin H., Han, Allen, Shackleton, Cedric H. L.

Journal:

The Journal of Investigative Dermatology

Année:

1983

Fichier:

PDF, 1.59 MB

1983

24

Abnormal steroidogenesis in three patients with Antley–Bixler syndrome: Apparent decreased activity of 17α-hydroxylase, 17,20-lyase and 21-hydroxylase

Masanori Adachi, Yumi Asakura, Katsuhiko Tachibana, Cedric Shackleton

Journal:

Pediatrics International

Année:

2004

Langue:

english

Fichier:

PDF, 331 KB

english, 2004

25

Seasonal Changes in the Production of Two Novel and Abundant Ovarian Steroids in the Channel Catfish (Ictalurus punctatus)

Julie L. Ponthier, Cedric H.L. Shackleton, John M. Trant

Journal:

General and Comparative Endocrinology

Année:

1998

Langue:

english

Fichier:

PDF, 231 KB

english, 1998

26

Identification of plasma glucocorticoids in pallid sturgeon in response to stress

Molly A.H. Webb, J. Alan Allert, Kevin M. Kappenman, Josep Marcos, Grant W. Feist, Carl B. Schreck, Cedric H. Shackleton

Journal:

General and Comparative Endocrinology

Année:

2007

Langue:

english

Fichier:

PDF, 212 KB

english, 2007

27

Urinary free cortisone and the assessment of 11β-hydroxysteroid dehydrogenase activity in man

Mario Palermo, Cedric H. L. Shackleton, Franco Mantero, Paul M. Stewart

Journal:

Clinical Endocrinology

Année:

1996

Langue:

english

Fichier:

PDF, 195 KB

english, 1996

28

Deficient inactivation of cortisol by 11β-hydroxysteroid dehydrogenase in essential hypertension

Brian R. Walker, Paul M. Stewart, Cedric H. L. Shackleton, Paul L. Padfield, Christopher R. W. Edwards

Journal:

Clinical Endocrinology

Année:

1993

Langue:

english

Fichier:

PDF, 667 KB

english, 1993

29

Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish Village

Suat Akgun, Norman H. Ertel, Julianne Imperato-Mcginley, Bekir Sitki Sayli, Cedric Shackleton

Journal:

The American Journal of Medicine

Année:

1986

Langue:

english

Fichier:

PDF, 816 KB

english, 1986

30

Improved recoveries in the extraction of steroids from neonatal urine

John W. Honour, Jacqui Kent, Cedric H. Shackleton

Journal:

Clinica Chimica Acta

Année:

1983

Langue:

english

Fichier:

PDF, 257 KB

english, 1983

31

18-Hydroxy-11-deoxycortisol: A new steroid isolated from incubations of the adrenal with 11-deoxycortisol

Celso E. Gomez-Sanchez, Mark F. Foecking, Cedric H.L. Shackleton, Manuel R. Chavarri, Elise P. Gomez-Sanchez

Journal:

Journal of Steroid Biochemistry

Année:

1987

Langue:

english

Fichier:

PDF, 594 KB

english, 1987

32

Conversion of 11-deoxycorticosterone and corticosterone to aldosterone by cytochrome P-450 11β-/18-hydroxylase from porcine adrenal

Yanagibashi Kazutoshi, Cedric H.L. Shackleton, Peter F. Hall

Journal:

Journal of Steroid Biochemistry

Année:

1988

Langue:

english

Fichier:

PDF, 986 KB

english, 1988

33

Origin of deoxycorticosterone and deoxycorticosterone sulfate in human pregnancy: Absence of steroid 21-sulfatase activity in sulfatase-deficient placenta

Alireza Guerami, Michael W. Varner, Cedric H.L. Shackleton, Paul C. MacDonald, M. Linette Casey

Journal:

Journal of Steroid Biochemistry

Année:

1988

Langue:

english

Fichier:

PDF, 757 KB

english, 1988

34

18-Substituted steroids—part 17. 2α-hydroxylated liver metabolites of aldosterone identified by high-field [1H]NMR spectroscopy

Syed A. Latif, David J. Morris, Llente Wei, David N. Kirk, Philip J. Burke, Harold C. Toms, Cedric H.L. Shackleton

Journal:

Journal of Steroid Biochemistry

Année:

1989

Langue:

english

Fichier:

PDF, 787 KB

english, 1989

35

Rate of glucose entry into hepatic uridine diphosphoglucose by the direct pathway in fasted and fed states in normal humans

Marc K. Hellerstein, Suzanne Kaempfer, J.Steven Reid, Ken Wu, Cedric H.L. Shackleton

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1.13 MB

english, 1995

36

Late-onset 21-hydroxylase deficiency: Reliable diagnosis by steroid analysis of random urine collections

Cedric H.L. Shackleton, Julian Irias, Catherine McDonald, Julianne Imperato-McGinley

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 536 KB

english, 1986

37

The 21-acetylation of corticosteroids by Clostridium sporogenes

Jeanette Winter, Cedric H.L. Shackleton, George N. Morris, Sheryl Locascio, Victor D. Bokkenheuser

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 651 KB

english, 1986

38

A paradox: Elevated 21-hydroxypregnenolone production in newborns with 21-hydroxylase deficiency

Cedric H.L. Shackleton, Janos Homoki, Norman F. Taylor

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 773 KB

english, 1987

39

Synthesis of 6β-hydroxyaldosterone by A6 (toad kidney) cells in culture

David J. Morris, Syed A. Latif, Tammy J. Conca, Liente Wei, Charles O. Watlington, David N. Kirk, Harold C. Toms, Cedric H.L. Shackleton

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 625 KB

english, 1990

40

Stable isotope labeling in steroid research: a historical perspective

Cedric H.L. Shackleton

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 408 KB

english, 1990

41

Androgen metabolism assessment by routine gas chromatography/mass spectrometry profiling of plasma steroids: part 1, unconjugated steroids

Stefan A. Wudy, Ulrich A. Wachter, Janos Homoki, Walter M. Teller, Cedric H.L. Shackleton

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 695 KB

english, 1992

42

Synthesis of deuterium-labeled 5α-androstane-3α,17β-diol and its 17β-glucuronide

Chung Bong-Chul, John P. Mallamo, Paul E. Juniewicz, Cedric H.L. Shackleton

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 711 KB

english, 1992

43

Corticosteroids in human blood: IX. Evidence for adrenal secretion of sulfate-conjugated cortisol, 11β,17α-dihydroxy-4-pregnene-3,20-dione-21-yl-sulfate

Ludwig Kornel, Suresh K. Patel, Ezeroug Ezzeraimi, Cedric H.L. Shackleton

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 687 KB

english, 1995

44

Apparent mineralocorticoid excess: Type I and type II

Franco Mantero, Mario Palermo, Massimiliano D. Petrelli, Rinaldo Tedde, Paul M. Stewart, Cedric H.L. Shackleton

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 467 KB

english, 1996

45

Carboxymethylation of the human estrogen receptor ligand-binding domain-estradiol complex: HPLC/ESMS peptide mapping shows that cysteine 447 does not react with iodoacetic acid

Gilbert B. Hegy, Cedric H.L. Shackleton, Mats Carlquist, Thomas Bonn, Owe Engström, Pelle Sjöholm, H.Ewa Witkowska

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 584 KB

english, 1996

46

Intact noncovalent dimer of estrogen receptor ligand-binding domain can be detected by electrospray ionization mass spectrometry

H.Ewa Witkowska, Brian N. Green, Mats Carlquist, Cedric H.L. Shackleton

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 566 KB

english, 1996

47

Clinical steroid mass spectrometry: A 45-year history culminating in HPLC–MS/MS becoming an essential tool for patient diagnosis

Cedric Shackleton

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2010

Langue:

english

Fichier:

PDF, 461 KB

english, 2010

48

Hair and skin sterols in normal mice and those with deficient dehydrosterol reductase (DHCR7), the enzyme associated with Smith-Lemli-Opitz syndrome

Montserrat Serra, Xavier Matabosch, Lee Ying, Gordon Watson, Cedric Shackleton

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2010

Langue:

english

Fichier:

PDF, 933 KB

english, 2010

49

Steroid profiling and analytics: Going towards sterome

Uta Ceglarek, Cedric Shackleton, Frank Z. Stanczyk, Jerzy Adamski

Journal:

The Journal of Steroid Biochemistry and Molecular Biology

Année:

2010

Langue:

english

Fichier:

PDF, 96 KB

english, 2010

50

The implications of 7-dehydrosterol-7-reductase deficiency (Smith–Lemli–Opitz syndrome) to neurosteroid production

Josep Marcos, Li-Wei Guo, William K Wilson, Forbes D Porter, Cedric Shackleton

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 191 KB

english, 2004