Luisa Bonafè: search on Z-Library

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51

Evolutionary Comparison Provides Evidence for Pathogenicity of RMRP Mutations

Bonafé, Luisa, Dermitzakis, Emmanouil T., Unger, Sheila, Greenberg, Cheryl R., Campos-Xavier, Belinda A., Zankl, Andreas, Ucla, Catherine, Antonarakis, Stylianos E., Superti-Furga, Andrea, Reymond, Al

Journal:

Year:

2005

Language:

english

File:

PDF, 857 KB

english, 2005

52

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de So

Journal:

Year:

2011

Language:

english

File:

PDF, 1.05 MB

english, 2011

53

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine

Journal:

Nature Genetics

Year:

2016

Language:

english

File:

PDF, 2.28 MB

english, 2016

54

Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation

Bayar, Ahmet, Acun, Ceyda, Dursun, Ahmet, Verhoeven, Nanda, Bonaf??, Luisa, Keser, Sel??uk, Superti-Furga, Andrea

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 221 KB

english, 2005

55

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

Simsek Kiper, Pelin O., Saito, Hiroaki, Gori, Francesca, Unger, Sheila, Hesse, Eric, Yamana, Kei, Kiviranta, Riku, Solban, Nicolas, Liu, Jeff, Brommage, Robert, Boduroglu, Koray, Bonafé, Luisa, Campos

Journal:

New England Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 707 KB

english, 2016

56

Peripheral osteolysis in adults linked to ASAH1 (acid ceramidase) mutations: A new presentation of Farber disease

Bonafé, Luisa, Kariminejad, Ariana, LI, Jia, Royer-Bertrand, Beryl, Garcia, Virginie, Mahdavi, Shokouholsadat, Bozorgmehr, Bita, Lachman, Ralph L., Mittaz-Crettol, Lauréane, Campos-Xavier, Belinda, Na

Journal:

Arthritis & Rheumatology

Year:

2016

Language:

english

File:

PDF, 2.35 MB

english, 2016

57

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

Pichler, Karin, Karall, Daniela, Kotzot, Dieter, Steichen-Gersdorf, Elisabeth, Rümmele-Waibel, Alexandra, Mittaz-Crettol, Laureane, Wanschitz, Julia, Bonafé, Luisa, Maurer, Kathrin, Superti-Furga, And

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 878 KB

english, 2016

58

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies

Machol, Keren, Jain, Mahim, Almannai, Mohammed, Orand, Thibault, Lu, James T., Tran, Alyssa, Chen, Yuqing, Schlesinger, Alan, Gibbs, Richard, Bonafe, Luisa, Campos-Xavier, Ana Belinda, Unger, Sheila,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 243 KB

english, 2016

59

Epidemiology of Neonatal Acute Respiratory Disorders

Rubaltelli, Firmino F., Bonafè, Luisa, Tangucci, Massimo, Spagnolo, Amedeo, Dani, Carlo

Journal:

Biology of the Neonate

Year:

1998

Language:

english

File:

PDF, 340 KB

english, 1998

60

Patients with osteogenesis imperfecta disease walk with reduced ground reaction force compared to healthy subjects

Bourgeois, Aline-Bregou, Aubry-Rozier, Bérengère, Schneider, Patrick, Morisod, Mia-Freymond, Vaswani, Anjali, Unger, Sheila, Bonafe, Luisa, Zambelli, Pierre-Yves, Favre, Julien, Jolles-Haeberli, Brigi

Journal:

Revue de Chirurgie Orthopédique et Traumatologique

Year:

2016

File:

PDF, 51 KB

2016

61

Current Care and Investigational Therapies in Achondroplasia

Unger, Sheila, Bonafé, Luisa, Gouze, Elvire

Journal:

Current Osteoporosis Reports

Year:

2017

Language:

english

File:

PDF, 664 KB

english, 2017

62

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism

Tran, Christel, Barbey, Frederic, Lazor, Romain, Bonafé, Luisa

Journal:

Year:

2017

Language:

english

File:

PDF, 449 KB

english, 2017

63

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, Clara D M, Bonafé, Luisa, Wen, Xiao-Yan, Tarailo-Graovac, Maja, Balzano, Sara, Royer-Bertrand, Beryl, Ashikov, Angel, Garavelli, Livia, Mammi, Isabella, Turolla, Licia, Breen, Catherine

Journal:

Nature Genetics

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

64

Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling

Capurro, Mariana, Izumikawa, Tomomi, Suarez, Philippe, Shi, Wen, Cydzik, Marzena, Kaneiwa, Tomoyuki, Gariepy, Jean, Bonafe, Luisa, Filmus, Jorge

Journal:

The Journal of Cell Biology

Year:

2017

Language:

english

File:

PDF, 2.57 MB

english, 2017

65

Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management

Tran, Christel, Bonafé, Luisa, Nuoffer, Jean-Marc, Rieger, Julie, Berger, Mette M.

Journal:

Clinical Nutrition

Year:

2017

Language:

english

File:

PDF, 344 KB

english, 2017

66

Lungenbeteiligung bei erwachsenen Patienten mit angeborenen Stoffwechselerkrankungen

Tran, Christel, Barbey, Frederic, Lazor, Romain, Bonafé, Luisa

Journal:

Karger Kompass Pneumologie

Year:

2018

Language:

german

File:

PDF, 713 KB

german, 2018

67

Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?

Debray, François-Guillaume, Damjanovic, Katarina, Rosset, Robin, Mittaz-Crettol, Lauréane, Roux, Clothilde, Braissant, Olivier, Barbey, Frédéric, Bonafé, Luisa, De Bandt, Jean-Pascal, Tappy, Luc, Paqu

Journal:

American Journal of Clinical Nutrition

Year:

2018

Language:

english

File:

PDF, 1.34 MB

english, 2018

68

Recurrent postpartum cerebral sinus vein thrombosis as a presentation of cystathionine-β-synthase deficiency

Novy, Jan, Ballhausen, Diana, Bonafé, Luisa, Cairoli, Anne, Angelillo-Scherrer, Anne, Bachmann, Claude, Michel, Patrik

Journal:

Thrombosis and Haemostasis

Year:

2010

Language:

english

File:

PDF, 89 KB

english, 2010