Ann Saada : rechercher sur Z-Library

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1

Shoulder dystocia: guidelines for clinical practice from the French College of Gynecologists and Obstetricians (CNGOF)

Sentilhes, Loïc, Sénat, Marie-Victoire, Boulogne, Anne-Isabelle, Deneux-Tharaux, Catherine, Fuchs, Florent, Legendre, Guillaume, Le Ray, Camille, Lopez, Emmanuel, Schmitz, Thomas, Lejeune-Saada, Véron

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Année:

2016

Langue:

english

Fichier:

PDF, 312 KB

english, 2016

2

Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects

Christie N. Jones, Chaya Miller, Ariel Tenenbaum, Linda L. Spremulli, Ann Saada

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 789 KB

english, 2009

3

Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European Reference Network on Rare Inherited and Congenital Anomalies (ERNICA)

Russo, Francesca Maria, Cordier, Anne-Gael, De Catte, Luc, Saada, Julien, Benachi, Alexandra, Deprest, Jan

Journal:

Prenatal Diagnosis

Année:

2018

Langue:

english

Fichier:

PDF, 766 KB

english, 2018

4

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Shaag, Avraham, Saada, Ann, Berger, Itai, Mandel, Hanna, Joseph, Adina, Feigenbaum, Annette, Elpeleg, Orly N.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 371 KB

english, 1999

5

The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria

Md. Emdadul Haque, Domenick Grasso, Chaya Miller, Linda L. Spremulli, Ann Saada

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 337 KB

english, 2008

6

13 NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

Esther Leshinsky, Ann Sophie Lebre, Limor Minai, Ann Saada, Julie Steffan, Sarit Cohen, Agnes Rotig

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 42 KB

english, 2010

7

99 Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects

Christie N. Jones, Chaya Miller, Ariel Tenenbaum, Linda L. Spremulli, Ann Saada

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 41 KB

english, 2010

8

148 Nonylphenol ethoxylate present in plastic labware inhibit mitochondrial respiratory chain complex I

Ann Saada, Andrew Holt, Corinne Belaiche

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 30 KB

english, 2010

9

Toward genotype phenotype correlations in GFM1 mutations

Louise Galmiche, Valérie Serre, Marine Beinat, Raïssa Zossou, Zahra Assouline, Anne-Sophie Lebre, Florence Chretien, Ruthie Shenhav, Avraham Zeharia, Ann Saada, Vanessa Vedrenne, Nathalie Boddaert, Pa

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 728 KB

english, 2012

10

Leukoencephalopathy with accumulated succinate is indicative ofSDHAF1related complex II deficiency

Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjornstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann

Journal:

Orphanet Journal of Rare Diseases

Année:

2012

Langue:

english

Fichier:

PDF, 231 KB

english, 2012

11

Teaching invasive prenatal procedures: effectiveness of two simple simulators in training

Cordier, Anne-Gael, Fuchs, Florent, Tassin, Mikael, Saada, Julien, Letourneau, Alexandra, Brisset, Sophie, Mandelbrot, Laurent, Bidat, Laurent, Benachi, Alexandra

Journal:

Prenatal Diagnosis

Année:

2016

Langue:

english

Fichier:

PDF, 3.13 MB

english, 2016

12

Revisiting mitochondrial diagnostic criteria in the new era of genomics

Witters, Peter, Saada, Ann, Honzik, Tomas, Tesarova, Marketa, Kleinle, Stephanie, Horvath, Rita, Goldstein, Amy, Morava, Eva

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 365 KB

english, 2017

13

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Orly N. Elpeleg, Avraham Shaag, Joseph Z. Glustein, Yair Anikster, Adina Joseph, Ann Saada

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 71 KB

english, 1997

14

Antenatal presentation of carnitine palmitoyltransferase II deficiency

Orly N. Elpeleg, Cathy Hammerman, Ann Saada, Avraham Shaag, Elena Golzand, Drorith Hochner-Celnikier, Itai Berger, Michel Nadjari

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 203 KB

english, 2001

15

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

Chaya Miller, Ann Saada, Nava Shaul, Naama Shabtai, Efrat Ben-Shalom, Avraham Shaag, Eli Hershkovitz, Orly Elpeleg

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 122 KB

english, 2004

16

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

Itai Berger, Eli Hershkovitz, Avraham Shaag, Simon Edvardson, Ann Saada, Orly Elpeleg

Journal:

Annals of Neurology

Année:

2008

Langue:

english

Fichier:

PDF, 164 KB

english, 2008

17

Deoxyribonucleoside Kinases in Mitochondrial DNA Depletion

Ann Saada-Reisch

Journal:

Année:

2005

Fichier:

PDF, 8 KB

2005

18

α-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders

Eugenia Yakunin, Ann Moser, Virginie Loeb, Ann Saada, Phyllis Faust, Denis I. Crane, Myriam Baes, Ronit Sharon

Journal:

Journal of Neuroscience Research

Année:

2010

Langue:

english

Fichier:

PDF, 330 KB

english, 2010

19

Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

Ann Saada, Maskit Bar-Meir, Corinne Belaiche, Chaya Miller, Orly Elpeleg

Journal:

Analytical Biochemistry

Année:

2004

Langue:

english

Fichier:

PDF, 241 KB

english, 2004

20

Novel selective human mitochondrial kinase inhibitors: Design, synthesis and enzymatic activity

Nunzia Ciliberti, Stefano Manfredini, Angela Angusti, Elisa Durini, Nicola Solaroli, Silvia Vertuani, Lisa Buzzoni, Maria Cruz Bonache, Efrat Ben-Shalom, Anna Karlsson, Ann Saada, Jan Balzarini

Journal:

Bioorganic & Medicinal Chemistry

Année:

2007

Langue:

english

Fichier:

PDF, 335 KB

english, 2007

21

The cytokine network of Wallerian degeneration: IL-10 and GM-CSF

Hadassah Be′eri, Fanny Reichert, Ann Saada, Shlomo Rotshenker

Journal:

European Journal of Neuroscience

Année:

1998

Langue:

english

Fichier:

PDF, 307 KB

english, 1998

22

2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase

Phyllis Dan, Simon Edvardson, Jacek Bielawski, Hiroko Hama, Ann Saada

Journal:

Lipids in Health and Disease

Année:

2011

Langue:

english

Fichier:

PDF, 377 KB

english, 2011

23

Sonography in prenatal diagnosis of congenital adrenal hyperplasia

Julien Saada, Anne-Gaëlle Grebille, Marie-Cécile Aubry, Arash Rafii, Yves Dumez, Alexandra Benachi

Journal:

Prenatal Diagnosis

Année:

2004

Langue:

english

Fichier:

PDF, 216 KB

english, 2004

24

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

Orly Elpeleg, Hanna Mandel, Ann Saada

Journal:

Journal of Molecular Medicine

Année:

2002

Langue:

english

Fichier:

PDF, 85 KB

english, 2002

25

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Ann Saada, Shimon Edvardson, Avraham Shaag, Wendy K. Chung, Reeval Segel, Chaya Miller, Chaim Jalas, Orly Elpeleg

Journal:

Journal of Inherited Metabolic Disease

Année:

2012

Langue:

english

Fichier:

PDF, 352 KB

english, 2012

26

A novel thiol antioxidant that crosses the blood brain barrier protects dopaminergic neurons in experimental models of Parkinson's disease

Merav Bahat-Stroomza, Yossi Gilgun-Sherki, Daniel Offen, Hana Panet, Ann Saada, Nili Krool-Galron, Aari Barzilai, Daphne Atlas, Eldad Melamed

Journal:

European Journal of Neuroscience

Année:

2005

Langue:

english

Fichier:

PDF, 336 KB

english, 2005

27

Interaction of a monoclonal antibody with the urease of Ureaplasma urealyticum

Ann-Britt Saada, Varda Deutsch, Itzhak Kahane

Journal:

FEMS Microbiology Letters

Année:

1988

Langue:

english

Fichier:

PDF, 430 KB

english, 1988

28

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A

Journal:

European Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 99 KB

english, 2009

29

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Smits, Paulien, Saada, Ann, Wortmann, Saskia B, Heister, Angelien J, Brink, Maaike, Pfundt, Rolph, Miller, Chaya, Haas, Dorothea, Hantschmann, Ralph, Rodenburg, Richard J T

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 383 KB

english, 2010

30

Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase

Levitas, Aviva, Muhammad, Emad, Harel, Gali, Saada, Ann, Caspi, Vered Chalifa, Manor, Esther, Beck, John C, Sheffield, Val, Parvari, Ruti

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 313 KB

english, 2010

31

10.1038/ng751

Saada, Ann, Shaag, Avraham, Mandel, Hanna, Nevo, Yoram, Eriksson, Staffan, Elpeleg, Orly

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 499 KB

english, 2001

32

10.1038/ng746

Mandel, Hanna, Szargel, Raymonde, Labay, Valentina, Elpeleg, Orly, Saada, Ann, Shalata, Adel, Anbinder, Yefim, Berkowitz, Drora, Hartman, Corina, Barak, Mila, Eriksson, Staffan, Cohen, Nadine

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 1.68 MB

english, 2001

33

FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

Daniele Ghezzi, Ann Saada, Pio D'Adamo, Erika Fernandez-Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.21 MB

english, 2008

34

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel, Frédéric M. Vaz, Ophry Pines, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 455 KB

english, 2008

35

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, Ilana Taustein, Ann Saada, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 442 KB

english, 2008

36

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Avraham Zeharia, Avraham Shaag, Riekelt H. Houtkooper, Tareq Hindi, Pascale de Lonlay, Gilli Erez, Laurence Hubert, Ann Saada, Yves de Keyzer, Gideon Eshel, Frédéric M. Vaz, Ophry Pines, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 47 KB

english, 2009

37

Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

Eyal Shteyer, Ann Saada, Avraham Shaag, Fida' Aziz Al-Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 616 KB

english, 2009

38

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Ann Saada, Rutger O. Vogel, Saskia J. Hoefs, Mariël A. van den Brand, Hans J. Wessels, Peter H. Willems, Hanka Venselaar, Avraham Shaag, Flora Barghuti, Orit Reish, Mordechai Shohat, Martijn A. Huynen

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2009

39

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 979 KB

english, 2009

40

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, Anne-Marie Mager-Heckel, Ann Saada, Marine Beinat, Olga Karicheva, Hanna Mandel, Noa Ofek, Reeval Segel, Daphna Marom, Agnes Rötig, Ivan Tarassov, Orly Elpe

Journal:

The American Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 25 KB

english, 2010

41

Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2

Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, Efrat Burak, Avraham Shaag, Jonatan Halvardson, Shimon Edvardson, Muhammad Mahajna, Shamir Zenvirt, Ann Saada, Stavit Shalev, Lars Feuk, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 344 KB

english, 2012

42

HMGA2–NFIB fusion in a pediatric intramuscular lipoma: a novel case of NFIB alteration in a large deep-seated adipocytic tumor

Anne Pierron, Carla Fernandez, Esma Saada, Frédérique Keslair, Géraldine Hery, Hélène Zattara, Florence Pedeutour

Journal:

Cancer Genetics and Cytogenetics

Année:

2009

Langue:

english

Fichier:

PDF, 552 KB

english, 2009

43

Mitochondrial respiratory enzymes are a major target of iron toxicity in rat heart cells

Gabriela Link, Ann Saada, Arie Pinson, Abraham M. Konijn, Chaim Hershko

Journal:

Journal of Laboratory and Clinical Medicine

Année:

1998

Langue:

english

Fichier:

PDF, 2.63 MB

english, 1998

44

Mitochondrial Encephalomyopathy Associated with a Novel Mutation in the Mitochondrial tRNAleu(UUR)Gene (A3243T)

Avraham Shaag, Ann Saada, Abraham Steinberg, Pnina Navon, Orly N. Elpeleg

Journal:

Biochemical and Biophysical Research Communications

Année:

1997

Langue:

english

Fichier:

PDF, 91 KB

english, 1997

45

Lipoamide Dehydrogenase Deficiency Due to a Novel Mutation in the Interface Domain

Eilon Shany, Ann Saada, Daniella Landau, Avraham Shaag, Eli Hershkovitz, Orly N. Elpeleg

Journal:

Biochemical and Biophysical Research Communications

Année:

1999

Langue:

english

Fichier:

PDF, 44 KB

english, 1999

46

ATP Synthesis in Lipoamide Dehydrogenase Deficiency

Ann Saada, Iris Aptowitzer, Gaby Link, Orly N. Elpeleg

Journal:

Biochemical and Biophysical Research Communications

Année:

2000

Langue:

english

Fichier:

PDF, 66 KB

english, 2000

47

CAG/CTG and CGG/GCC Repeats in Human Brain Reference cDNAs: Outcome in Searching for New Dynamic Mutations

Veronique Albanese, Sebastien Holbert, Claudine Saada, Sebastian Meier-Ewert, Anne-Sophie Lebre, Stephanie Moriniere, Lydie Bougueleret, Isabelle Le Gall, Jean Weissenbach, Greg Lennon, Hans Lehrach,

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 82 KB

english, 1998

48

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum-Galski, Orly Elpeleg

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 916 KB

english, 2008

49

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis, Gal Finer, Hanah Shalev, Ahmad Nasasra, Ann Saada, Ohad S. Birk

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 836 KB

english, 2008

50

The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion

Chaya Miller, Liya Wang, Elsebet Ostergaard, Phyllis Dan, Ann Saada

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Année:

2011

Langue:

english

Fichier:

PDF, 686 KB

english, 2011