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244 results on '"Steffann, J."'

9. P-553 Response to controlled ovarian stimulation and preimplantation genetic testing for molecular disease (PGT-M) outcomes for Myotonic dystrophy type I (DM1) : A French multicentric study

Author

Sonigo, C, primary, Ranisavljevic, N, additional, Guigui, M, additional, Anahory, T, additional, Mayeur, A, additional, Moutou, C, additional, Rongières, C, additional, Reignier, A, additional, Lefebvre, T, additional, Girardet, A, additional, Ray, P, additional, Steffann, J, additional, Pirrello, O, additional, and Grynberg, M, additional

Published
2022
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13. 243rd ENMC international workshop: Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease, Amsterdam, the Netherlands, 22–24 March 2019

Author

Poulton, Joanna, Steffann, Julie, Burgstaller, Joerg, McFarland, Robert, Arbeithuber, B., Bengoa, J., Burgstaller, J., Chan, S., Chiaratti, M., Crouch, M., Dimond, R., Enriques, J. A., Gorman, G., Hyslop, L., Johnston, I., Kitto, J., Maguire, A., Mitalipov, S., Otterloo, Van, Poulton, J., Sallevelt, S., Smeets, H., Spits, C., St John, J., Steffann, J., Stewart, J., Stoneking, M., Thorburn, D., van der Veer, E., Wells, D., MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, RS: FHML MaCSBio, RS: MHeNs - R3 - Neuroscience, Basic (bio-) Medical Sciences, and Reproduction and Genetics

Subjects
PGD, Mitochondrial DNA, medicine.medical_specialty, PREIMPLANTATION GENETIC DIAGNOSIS, MUTATIONS, TRANSMISSION, MEDLINE, HUMAN OOCYTES, Disease, Biology, REPLACEMENT, Neurology, Family medicine, BOTTLENECK, Pediatrics, Perinatology and Child Health, MITOCHONDRIAL-DNA DISORDERS, medicine, HETEROPLASMY, SEGREGATION, Neurology (clinical), Genetics (clinical)
Published
2019

15. ISSCR Guidelines for Stem Cell Research and Clinical Translation: The 2021 update

Author

Lovell-Badge, R, Anthony, E, Barker, RA, Bubela, T, Brivanlou, AH, Carpenter, M, Charo, RA, Clark, A, Clayton, E, Cong, Y, Daley, GQ, Fu, J, Fujita, M, Greenfield, A, Goldman, SA, Hill, L, Hyun, I, Isasi, R, Kahn, J, Kato, K, Kim, J-S, Kimmelman, J, Knoblich, JA, Mathews, D, Montserrat, N, Mosher, J, Munsie, M, Nakauchi, H, Naldini, L, Naughton, G, Niakan, K, Ogbogu, U, Pedersen, R, Rivron, N, Rooke, H, Rossant, J, Round, J, Saitou, M, Sipp, D, Steffann, J, Sugarman, J, Surani, A, Takahashi, J, Tang, F, Turner, L, Zettler, PJ, Zhai, X, Lovell-Badge, R, Anthony, E, Barker, RA, Bubela, T, Brivanlou, AH, Carpenter, M, Charo, RA, Clark, A, Clayton, E, Cong, Y, Daley, GQ, Fu, J, Fujita, M, Greenfield, A, Goldman, SA, Hill, L, Hyun, I, Isasi, R, Kahn, J, Kato, K, Kim, J-S, Kimmelman, J, Knoblich, JA, Mathews, D, Montserrat, N, Mosher, J, Munsie, M, Nakauchi, H, Naldini, L, Naughton, G, Niakan, K, Ogbogu, U, Pedersen, R, Rivron, N, Rooke, H, Rossant, J, Round, J, Saitou, M, Sipp, D, Steffann, J, Sugarman, J, Surani, A, Takahashi, J, Tang, F, Turner, L, Zettler, PJ, and Zhai, X

Abstract

The International Society for Stem Cell Research has updated its Guidelines for Stem Cell Research and Clinical Translation in order to address advances in stem cell science and other relevant fields, together with the associated ethical, social, and policy issues that have arisen since the last update in 2016. While growing to encompass the evolving science, clinical applications of stem cells, and the increasingly complex implications of stem cell research for society, the basic principles underlying the Guidelines remain unchanged, and they will continue to serve as the standard for the field and as a resource for scientists, regulators, funders, physicians, and members of the public, including patients. A summary of the key updates and issues is presented here.

Published
2021

16. Biallelic IARS2 mutations presenting as sideroblastic anemia

Author

Barcia, G, Pandithan, D, Ruzzenente, B, Assouline, Z, Pennisi, A, Besmond, C, Roux, C-J, Boddaert, N, Desguerre, I, Thorburn, DR, Bratkovic, D, Munnich, A, Bonnefont, J-P, Rotig, A, Steffann, J, Barcia, G, Pandithan, D, Ruzzenente, B, Assouline, Z, Pennisi, A, Besmond, C, Roux, C-J, Boddaert, N, Desguerre, I, Thorburn, DR, Bratkovic, D, Munnich, A, Bonnefont, J-P, Rotig, A, and Steffann, J

Abstract

Not available.

Published
2021

20. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Author

Lebre, A S, Rio, M, Faivre dʼArcier, L, Vernerey, D, Landrieu, P, Slama, A, Jardel, C, Laforêt, P, Rodriguez, D, Dorison, N, Galanaud, D, Chabrol, B, Paquis-Flucklinger, V, Grévent, D, Edvardson, S, Steffann, J, Funalot, B, Villeneuve, N, Valayannopoulos, V, de Lonlay, P, Desguerre, I, Brunelle, F, Bonnefont, J P, Rötig, A, Munnich, A, and Boddaert, N

Published
2011
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21. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations*

Author

Bellon, N., primary, Hadj‐Rabia, S., additional, Moulin, F., additional, Lambe, C., additional, Lezmi, G., additional, Charbit‐Henrion, F., additional, Alby, C., additional, Le Saché‐de Peufeilhoux, L., additional, Leclerc‐Mercier, S., additional, Hadchouel, A., additional, Steffann, J., additional, Hovnanian, A., additional, Lapillonne, A., additional, and Bodemer, C., additional

Published
2020
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22. Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti

Author

Bodemer, C., primary, Diociaiuti, A., additional, Hadj‐Rabia, S., additional, Robert, M.P., additional, Desguerre, I., additional, Manière, M.‐C., additional, Dure‐Molla, M., additional, De Liso, P., additional, Federici, M., additional, Galeotti, A., additional, Fusco, F., additional, Fraitag, S., additional, Demily, C., additional, Taieb, C., additional, Valeria Ursini, M., additional, El Hachem, M., additional, and Steffann, J., additional

Published
2020
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26. Séquençage du génome entier et génodermatoses : succès et difficultés après 4 ans d’activité

Author

Hadj-Rabia, S., Morice-Picard, F., Pacot, L., Parfait, B., Michaud, V., Lasseaux, E., Vidaud, D., Steffann, J., and Charbit-Henrion, F.

Abstract

Depuis 2020, les plateformes, AURAGEN (Sud) et SeqOIA (Nord), permettent le séquençage du génome entier dans le cadre du diagnostic. En dermatologie, trois pré-indications ont été retenues : neurofibromatoses, génodermatose cliniquement identifiée et dont le diagnostic moléculaire reste incomplet (ex : ichtyose), ou dont le gène n’est pas analysé sur un panel en France (ex : cutis laxa) et génodermatose dont le phénotype ne permet pas d’orienter l’analyse moléculaire. Rappelons que les panels utilisés en dermatologie permettent de résoudre 80 % des dossiers soumis. Nous analysons, ici, les indications et les résultats et identifions certains des écueils rencontrés après 4 ans de pratique.

Published
2024
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27. Stability of the m.8993T (right arrow) G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome

Author

Steffann, J., Gigarel, N., Corcos, J., Bonniere, M., Encha-Razavi, F., Sinico, M., Prevot, S., Dumez, Y., Yamgnane, A., Frydman, R., Munnich, A., and Bonnefont, J.P.

Subjects
Gene mutations -- Research, Gene mutations -- Physiological aspects, Genetic disorders -- Diagnosis, Fetus -- Growth, Fetus -- Genetic aspects, Fetus -- Research, Health
Published
2007

33. The clinical utility of PGD with HLA matching: A collaborative multi-centre ESHRE study

Author

Kakourou, G. Kahraman, S. Ekmekci, G.C. Tac, H.A. Kourlaba, G. Kourkouni, E. Sanz, A.C. Martin, J. Malmgren, H. Giménez, C. Gold, V. Carvalho, F. Billi, C. Chow, J.F.C. Vendrell, X. Kokkali, G. Liss, J. Steffann, J. Traeger-Synodinos, J.

Abstract

STUDY QUESTION Has PGD-HLA been successful relative to diagnostic and clinical efficacy? SUMMARY ANSWER The diagnostic efficacy of PGD-HLA protocols was found lower in this study in comparison to published PGD-HLA protocols and to that reported for general PGD by ESHRE (78.5 vs 94.1% and vs 92.6%, respectively), while the clinical efficacy has proven very difficult to assess due to inadequate follow-up of both the ART/PGD and HSCT procedure outcomes. WHAT IS KNOWN ALREADY The first clinical cases for PGD-HLA were reported in 2001. It is now a well-established procedure, with an increasing number of cycles performed every year. However, PGD-HLA is still offered by relatively few PGD centres, the currently available data is fragmented and most reports on PGD-HLA applications are limited in number and scope. Published systematic details on methodology, diagnostic results, overall ART success and haematopoietic stem cell transplantation (HSCT) outcomes are limited, precluding an evaluation of the true clinical utility of PGD-HLA cycles. STUDY DESIGN, SIZE, DURATION This retrospective multi-centre cohort study aimed to investigate the diagnostic and clinical efficacy of the PGD-HLA procedure and the aspects of PGD-HLA cycles influencing positive outcomes: birth of genetically suitable donor-baby (or babies) and HSCT. In April 2014, 32 PGD centres (Consortium members and non-members) with published/known PGD-HLA activity were invited to participate. Between February and September 2015, 14 centres submitted their data, through a custom-designed secure database, with unique login access for each centre. Data parameters covered all aspects of PGD-HLA cycles (ART, embryology and genetic diagnosis), donor-babies born and HSCT. PARTICIPANTS/MATERIALS, SETTING, METHODS From 716 cycles submitted by 14 centres (performed between August 2001 and September 2015), the quality evaluation excluded 12 cycles, leaving 704, from 364 couples. The online database, based on REDCap, a free, secure, web-based data-capture application, was customized by Centre for Clinical Epidemiology and Outcomes Research (CLEO), Athens. Continuous variables are presented using mean, standard deviation, median and interquartile range, and categorical variables are presented as absolute and relative frequencies. MAIN RESULTS AND THE ROLE OF CHANCE The data included 704 HLA-PGD cycles. Mean maternal age was 33.5 years. Most couples (81.3%) requested HLA-typing with concurrent exclusion of a single monogenic disease (58.6% for beta-thalassaemia). In 92.5% couples, both partners were fertile, with an average 1.93 HLA-PGD cycles/couple. Overall, 9751 oocytes were retrieved (13.9/cycle) and 5532 embryos were analysed (7.9/cycle). Most cycles involved fresh oocytes (94.9%) and Day 3 embryo biopsy (85.3%). In 97.5% of cycles, the genotyping method involved PCR only. Of 4343 embryos diagnosed (78.5% of analysed embryos), 677 were genetically suitable (15.4% of those analysed for HLA alone, 11.6% of those analysed for HLA with exclusion of monogenic disease). Of the 364 couples, 56.6% achieved an embryo transfer (ET) and 598 embryos were transferred in 382 cycles, leading to 164 HCG-positive pregnancies (pregnancy rate/ET 41.3%, pregnancy rate/initiated cycle 23.3%) and 136 babies born (live birth rate/ET 34.3%, live birth rate/initiated cycle 19.3%) to 113 couples. Data analysis identified the following limitations to the overall success of the HLA-PGD procedure: the age of the mother undergoing the treatment cycle, the number of oocytes collected per cycle and genetic chance. HSCT was reported for 57 cases, of which 64.9% involved combined umbilical cord-blood and bone marrow transplantation from the HLA-identical sibling donor; 77.3% of transplants reported no complications. LIMITATIONS REASONS FOR CAUTION The findings of the study may be limited as not all PGD centres with PGD-HLA experience participated. Reporting bias on completion of the online database may be another potential limitation. Furthermore, the study is based on retrospective data collection from centres with variable practices and strategies for ART, embryology and genetic diagnosis. WIDER IMPLICATIONS OF THE FINDINGS This is the first multi-centre study evaluating the clinical utility of PGD-HLA, indicating variations in practice and outcomes throughout 15 years and between centres. The study highlights parameters important for positive outcomes and provides important information for both scientists and couples interested in initiating a cycle. Above all, the study underlines the need for better collaboration between all specialists involved in the ART-PGD/HLA procedure, as well as the need for comprehensive and prospective long-term data collection, and encourages all specialists to aim to properly evaluate and follow-up all procedures, with the ultimate aim to promote best practice and encourage patient informed decision making. STUDY FUNDING/COMPETING INTEREST(S) The study wishes to acknowledge ESHRE for funding the customization of the REDCap database. There are no competing interests. TRIAL REGISTRATION NUMBER N/A. © The Author(s) 2018. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved.

Published
2018

36. The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations*.

Author

Bellon, N., Hadj‐Rabia, S., Moulin, F., Lambe, C., Lezmi, G., Charbit‐Henrion, F., Alby, C., Le Saché‐de Peufeilhoux, L., Leclerc‐Mercier, S., Hadchouel, A., Steffann, J., Hovnanian, A., Lapillonne, A., and Bodemer, C.

Subjects
INFANTS, CUTANEOUS manifestations of general diseases, NUTRITIONAL requirements, GENETIC disorders, DEATH rate, EPIDERMOLYSIS bullosa
Abstract

Summary: Background: Netherton syndrome (NS) is a rare disease caused by SPINK5 mutations, featuring variable skin and hair involvement and, in many cases, allergic manifestations with a risk of lethality, particularly in infants. The clinical management of NS is challenging. Objectives: To analyse the clinical manifestations of a cohort of infants with NS managed in a reference centre and to draw up recommendations for management. Methods: We conducted a monocentric analysis of patients with NS. The inclusion criteria were management in our reference centre, a histologically or molecularly confirmed diagnosis of NS and available epidemiological, clinical and laboratory data. Results: A total of 43 patients with NS were included. Hypernatraemia was reported in 23 cases (54%) and associated with a greater likelihood of enteral and/or parenteral nutritional support (P < 0.001). Moreover, hypernatraemia was more frequent in patients with skin manifestations at birth (P = 0.026) and in patients bearing the c.153delT mutation in SPINK5 exon 3 (P = 0.014). The need for enteral and/or parenteral nutritional support was associated with a history of hypernatraemic dehydration (P < 0.001). Several unexpected extracutaneous complications were recorded, and new mutations were reported. The death rate (9% overall) was higher among the subset of patients bearing the c.153delT deletion. Conclusions: Our data emphasize that neonatal NS is a severe and sometimes lethal multisystem disorder. Patients have a high risk of variable metabolic anomalies (i.e. lethal hypernatraemia) and therefore have major nutritional needs. Cases of NS associated with c.153delT are particularly severe. Unexpected clinical manifestations broadened the phenotypic spectrum of NS. We provide recommendations on the management of the life‐threatening manifestations of NS in neonates based on our multidisciplinary experience. What is already known about this topic? Netherton syndrome (NS) is a rare genetic disease characterized by dermatitis, skin fragility, hair involvement and (in most cases) severe allergic manifestations.Most previous clinical studies of NS have described older children. What does this study add? Our series of 43 infants with NS showed unexpected systemic manifestations and new mutations.Our findings prompted us to make several recommendations regarding multidisciplinary investigations and the management of life‐threatening manifestations in young children with NS.Infants with NS require specific care protocols and Netherton syndrome should be considered as a systemic lifelong disease. Plain language summary available online [ABSTRACT FROM AUTHOR]

Published
2021
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40. Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

Author

Kuleva, M, Ben Miled, S, Steffann, J, Bonnefont, JP, Rondeau, S, Ville, Y, Munnich, A, Salomon, LJ, Bonnefont, J P, and Salomon, L J

Subjects
DIABETES in women, MITOCHONDRIAL DNA, NUCLEAR DNA, PREGNANCY complications, ABORTION, GESTATIONAL diabetes
Abstract

Objective: To investigate the obstetric outcome of women carriers of the oxidative phosphorylation (OXPHOS) disorder mutation.Design: A retrospective cohort study in a single tertiary centre.Setting: A review of the obstetric history of women referred for prenatal screening of a mitochondrial disorder was performed.Population: Women were divided into three groups: (1) women carrying mitochondrial DNA (mtDNA) mutations; (2) healthy women with a family history of mtDNA-related OXPHOS disorder; and (3) healthy women carrying heterozygote nuclear DNA mutations.Methods: Obstetric history and pregnancy complications were evaluated separately in the three groups and compared with the control group. MAIN OUTCOME MEASURES PREGNANCY COMPLICATIONS.Results: Seventy-five women were included with 287 cumulative pregnancies. Groups 1 and 3 had a significantly greater proportion of terminations of pregnancy (20 and 13% versus 0.8%, P < 0.001), and a lower percentage of live births (52 and 72% versus 87%, P = 0.001), compared with controls. Apart from this, the rate of obstetric complications in group 3 did not differ from the controls. The obstetric history of women in group 1 was marked by higher rates of early miscarriages (26 versus 11%, P = 0.004), gestational diabetes (14 versus 3%, P = 0.02), intrauterine growth restriction (IUGR, 10 versus 1%, P = 0.008), and postpartum haemorrhage than were reported for controls (12 versus 2%, P = 0.01).Conclusion: Women who are heteroplasmic for OXPHOS mutations have a higher incidence of pregnancy losses, gestational diabetes, IUGR, and post postpartum haemorrhage.Tweetable Abstract: Women heteroplasmic for mitochondrial DNA mutations have a higher incidence of obstetric complications, compared with the control group. [ABSTRACT FROM AUTHOR]

Published
2019
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42. Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to Incontinentia pigmenti disease

Author

Conte MI, Pescatore A, Paciolla M, Esposito E, Miano MG, Lioi MB, McAleer MA, Giardino G, Pignata C, Irvine AD, Scheuerle AE, Royer G, Hadj-Rabia S, Bodemer C, Bonnefont J-P, Munnich A, Smahi A, Steffann J, Fusco F, and Ursini MV

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, skin and connective tissue diseases
Abstract

Incontinentia Pigmenti (IP) is an X-linked-dominant Mendelian disorder caused by mutation in the IKBKG/NEMO gene, encoding for NEMO/IKKgamma, a regulatory protein of NF-kB signaling. In more than 80% of cases, IP is due to recurrent or non-recurrent deletions causing Loss-of-Function (LoF) of NEMO/IKKgamma. We review how the local architecture of the IKBKG/NEMO locus with segmental duplication and a high frequency of repetitive elements favor de novo aberrant recombination through different mechanisms producing genomic microdeletion. We report here a new micro-indel (c.436_471delinsT, p.Val146X) arising through a DNA-replication-repair Fork-Stalling-and-Template-Switching (FoSTeS) and Microhomology-Mediated-End-Joining (MMEJ) mechanism in a sporadic IP case. The LoF mutations of IKBKG/NEMO leading to IP include small insertions/deletions (indel) causing frameshift and premature stop codons, which account for 10% of cases. We here present 21 point mutations previously unreported, which further extend the spectrum of pathologic variants: 14/21 predict LoF because of premature stop codon (6/14) or frameshift (8/14), while 7/21 predict a partial loss of NEMO/IKKgamma activity (2 splicing and 5 missense). We review how the analysis of IP-associated IKBKG/NEMO hypomorphic mutants has contributed to the understanding of the pathophysiological mechanism of IP-disease and has provided important information on affected NF-kB signaling. We built a locus-specific database listing all IKBKG/NEMO variants

Published
2014

46. Reproductive endocrinology

Author

Nazzaro, A., primary, Salerno, A., additional, Di Iorio, L., additional, Landino, G., additional, Marino, S., additional, Pastore, E., additional, Fabregues, F., additional, Iraola, A., additional, Casals, G., additional, Creus, M., additional, Peralta, S., additional, Penarrubia, J., additional, Manau, D., additional, Civico, S., additional, Balasch, J., additional, Lindgren, I., additional, Giwercman, Y. L., additional, Celik, E., additional, Turkcuoglu, I., additional, Ata, B., additional, Karaer, A., additional, Kirici, P., additional, Berker, B., additional, Park, J., additional, Kim, J., additional, Rhee, J., additional, Krishnan, M., additional, Rustamov, O., additional, Russel, R., additional, Fitzgerald, C., additional, Roberts, S., additional, Hapuarachi, S., additional, Tan, B. K., additional, Mathur, R. S., additional, van de Vijver, A., additional, Blockeel, C., additional, Camus, M., additional, Polyzos, N., additional, Van Landuyt, L., additional, Tournaye, H., additional, Turhan, N. O., additional, Hizli, D., additional, Kamalak, Z., additional, Kosus, A., additional, Kosus, N., additional, Kafali, H., additional, Lukaszuk, A., additional, Kunicki, M., additional, Liss, J., additional, Bednarowska, A., additional, Jakiel, G., additional, Lukaszuk, K., additional, Lukaszuk, M., additional, Olszak-Sokolowska, B., additional, Wasniewski, T., additional, Neuberg, M., additional, Cavalcanti, V., additional, Peluso, C., additional, Lechado, B. L., additional, Cordts, E. B., additional, Christofolini, D. M., additional, Barbosa, C. P., additional, Bianco, B., additional, Venetis, C. A., additional, Kolibianakis, E. M., additional, Bosdou, J., additional, Tarlatzis, B. C., additional, Onal, M., additional, Gungor, D. N., additional, Acet, M., additional, Kahraman, S., additional, Kuijper, E., additional, Twisk, J., additional, Caanen, M., additional, Korsen, T., additional, Hompes, P., additional, Kushnir, M., additional, Rockwood, A., additional, Meikle, W., additional, Lambalk, C. B., additional, Yan, X., additional, Dai, X., additional, Wang, J., additional, Zhao, N., additional, Cui, Y., additional, Liu, J., additional, Yarde, F., additional, Maas, A. H. E. M., additional, Franx, A., additional, Eijkemans, M. J. C., additional, Drost, J. T., additional, van Rijn, B. B., additional, van Eyck, J., additional, van der Schouw, Y. T., additional, Broekmans, F. J. M., additional, Martyn, F., additional, Anglim, B., additional, Wingfield, M., additional, Fang, T., additional, Yan, G. J., additional, Sun, H. X., additional, Hu, Y. L., additional, Chrudimska, J., additional, Krenkova, P., additional, Macek, M., additional, Teixeira da Silva, J., additional, Cunha, M., additional, Silva, J., additional, Viana, P., additional, Goncalves, A., additional, Barros, N., additional, Oliveira, C., additional, Sousa, M., additional, Barros, A., additional, Nelson, S. M., additional, Lloyd, S. M., additional, McConnachie, A., additional, Khader, A., additional, Fleming, R., additional, Lawlor, D. A., additional, Thuesen, L., additional, Andersen, A. N., additional, Loft, A., additional, Smitz, J., additional, Abdel-Rahman, M., additional, Ismail, S., additional, Silk, J., additional, Abdellah, M., additional, Abdellah, A. H., additional, Ruiz, F., additional, Cruz, M., additional, Piro, M., additional, Collado, D., additional, Garcia-Velasco, J. A., additional, Requena, A., additional, Kollmann, Z., additional, Bersinger, N. A., additional, McKinnon, B., additional, Schneider, S., additional, Mueller, M. D., additional, von Wolff, M., additional, Vaucher, A., additional, Weiss, B., additional, Stute, P., additional, Marti, U., additional, Chai, J., additional, Yeung, W. Y. T., additional, Lee, C. Y. V., additional, Li, W. H. R., additional, Ho, P. C., additional, Ng, H. Y. E., additional, Kim, S. M., additional, Kim, S. H., additional, Jee, B. C., additional, Ku, S., additional, Suh, C. S., additional, Choi, Y. M., additional, Kim, J. G., additional, Moon, S. Y., additional, Lee, J. H., additional, Kim, S. G., additional, Kim, Y. Y., additional, Kim, H. J., additional, Lee, K. H., additional, Park, I. H., additional, Sun, H. G., additional, Hwang, Y. I., additional, Sung, N. Y., additional, Choi, M. H., additional, Cha, S. H., additional, Park, C. W., additional, Kim, J. Y., additional, Yang, K. M., additional, Song, I. O., additional, Koong, M. K., additional, Kang, I. S., additional, Kim, H. O., additional, Haines, C., additional, Wong, W. Y., additional, Kong, W. S., additional, Cheung, L. P., additional, Choy, T. K., additional, Leung, P. C., additional, Fadini, R., additional, Coticchio, G., additional, Renzini, M. M., additional, Guglielmo, M. C., additional, Brambillasca, F., additional, Hourvitz, A., additional, Albertini, D. F., additional, Novara, P., additional, Merola, M., additional, Dal Canto, M., additional, Iza, J. A. A., additional, DePablo, J. L., additional, Anarte, C., additional, Domingo, A., additional, Abanto, E., additional, Barrenetxea, G., additional, Kato, R., additional, Kawachiya, S., additional, Bodri, D., additional, Kondo, M., additional, Matsumoto, T., additional, Maldonado, L. G. L., additional, Setti, A. S., additional, Braga, D. P. A. F., additional, Iaconelli, A., additional, Borges, E., additional, Iaconelli, C., additional, Figueira, R. C. S., additional, Kitaya, K., additional, Taguchi, S., additional, Funabiki, M., additional, Tada, Y., additional, Hayashi, T., additional, Nakamura, Y., additional, Snajderova, M., additional, Zemkova, D., additional, Lanska, V., additional, Teslik, L., additional, Calonge, R. N. -, additional, Ortega, L., additional, Garcia, A., additional, Cortes, S., additional, Guijarro, A., additional, Peregrin, P. C., additional, Bellavia, M., additional, Pesant, M. H., additional, Wirthner, D., additional, Portman, L., additional, de Ziegler, D., additional, Wunder, D., additional, Chen, X., additional, Chen, S. H. L., additional, Liu, Y. D., additional, Tao, T., additional, Xu, L. J., additional, Tian, X. L., additional, Ye, D. S. H., additional, He, Y. X., additional, Carby, A., additional, Barsoum, E., additional, El-Shawarby, S., additional, Trew, G., additional, Lavery, S., additional, Mishieva, N., additional, Barkalina, N., additional, Korneeva, I., additional, Ivanets, T., additional, Abubakirov, A., additional, Chavoshinejad, R., additional, Hartshorne, G. m., additional, Marei, W., additional, Fouladi-nashta, A. a., additional, Kyrkou, G., additional, Trakakis, E., additional, Chrelias, C. H., additional, Alexiou, E., additional, Lykeridou, K., additional, Mastorakos, G., additional, Bersinger, N., additional, Ferrero, H., additional, Gomez, R., additional, Garcia-Pascual, C. M., additional, Simon, C., additional, Pellicer, A., additional, Turienzo, A., additional, Lledo, B., additional, Guerrero, J., additional, Ortiz, J. 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P., additional, Skrgatic, L., additional, Simunic, V., additional, Vrcic, H., additional, Rogic, D., additional, Juras, J., additional, Goldstein, M. S., additional, Garcia De Miguel, L., additional, Campo, M. C., additional, Gurria, A., additional, Alonso, J., additional, Serrano, A., additional, Marban, E., additional, Shalev, L., additional, Yung, Y., additional, Yerushalmi, G., additional, Giovanni, C., additional, Has, J., additional, Maman, E., additional, Monterde, M., additional, Marzal, A., additional, Vega, O., additional, Rubio, J. m., additional, Diaz-Garcia, C., additional, Eapen, A., additional, Datta, A., additional, Kurinchi-selvan, A., additional, Birch, H., additional, Lockwood, G. M., additional, Ornek, M. C., additional, Ates, U., additional, Usta, T., additional, Goksedef, C. 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M., additional, Ozturk, S., additional, Sozen, B., additional, Yaba-Ucar, A., additional, Mutlu, D., additional, Demir, N., additional, Olsson, H., additional, Sandstrom, R., additional, Grundemar, L., additional, Papaleo, E., additional, Corti, L., additional, Rabellotti, E., additional, Vanni, V. S., additional, Potenza, M., additional, Molgora, M., additional, Vigano, P., additional, Candiani, M., additional, Fernandez-Sanchez, M., additional, Bosch, E., additional, Visnova, H., additional, Barri, P., additional, Fauser, B. J. C. M., additional, Arce, J. C., additional, Peluso, P., additional, Trevisan, C. M., additional, Fonseca, F. A., additional, Bakas, P., additional, Vlahos, N., additional, Hassiakos, D., additional, Tzanakaki, D., additional, Gregoriou, O., additional, Liapis, A., additional, Creatsas, G., additional, Adda-Herzog, E., additional, Steffann, J., additional, Sebag-Peyrelevade, S., additional, Poulain, M., additional, Benachi, A., additional, Fanchin, R., additional, Zhang, D., additional, Aybar, F., additional, Temel, S., additional, Hamdine, O., additional, Macklon, N. S., additional, Laven, J. S., additional, Cohlen, B. J., additional, Verhoeff, A., additional, van Dop, P. A., additional, Bernardus, R. E., additional, Oosterhuis, G. J. E., additional, Holleboom, C. A. G., additional, van den Dool-Maasland, G. C., additional, Verburg, H. J., additional, van der Heijden, P. F. M., additional, Blankhart, A., additional, Fauser, B. C. J. M., additional, Broekmans, F. J., additional, Bhattacharya, J., additional, Mitra, A., additional, Dutta, G. B., additional, Kundu, A., additional, Bhattacharya, M., additional, Kundu, S., additional, Pigny, P., additional, Dassonneville, A., additional, Catteau-Jonard, S., additional, Decanter, C., additional, Dewailly, D., additional, Pouly, J., additional, Olivennes, F., additional, Massin, N., additional, Celle, M., additional, Caizergues, N., additional, Gaudoin, M., additional, Messow, M., additional, Vanhove, L., additional, Peigne, M., additional, Thomas, P., additional, and Robin, G., additional

Published
2013
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47. A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Author

Assouline, Z., primary, Jambou, M., additional, Rio, M., additional, Bole-Feysot, C., additional, de Lonlay, P., additional, Barnerias, C., additional, Desguerre, I., additional, Bonnemains, C., additional, Guillermet, C., additional, Steffann, J., additional, Munnich, A., additional, Bonnefont, J.P., additional, Rötig, A., additional, and Lebre, A.S., additional

Published
2012
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48. Diagnostic préimplantatoire avec typage HLA : naissance du premier enfant du double espoir en France

Author

Lamazou, F., primary, Steffann, J., additional, Frydman, N., additional, Burlet, P., additional, Gigarel, N., additional, Romana, S., additional, Bonnefont, J.-P., additional, Lelorch, M., additional, Hesters, L., additional, Fanchin, R., additional, Kerbrat, V., additional, Vekemans, M., additional, Munnich, A., additional, and Frydman, R., additional

Published
2011
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50. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Author

Lebre, A. S., primary, Rio, M., additional, Faivre d'Arcier, L., additional, Vernerey, D., additional, Landrieu, P., additional, Slama, A., additional, Jardel, C., additional, Laforet, P., additional, Rodriguez, D., additional, Dorison, N., additional, Galanaud, D., additional, Chabrol, B., additional, Paquis-Flucklinger, V., additional, Grevent, D., additional, Edvardson, S., additional, Steffann, J., additional, Funalot, B., additional, Villeneuve, N., additional, Valayannopoulos, V., additional, de Lonlay, P., additional, Desguerre, I., additional, Brunelle, F., additional, Bonnefont, J. P., additional, Rotig, A., additional, Munnich, A., additional, and Boddaert, N., additional

Published
2010
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