Author Response: Penetrance of the LHON Mutation m.11778G>A May Depend on Factors Other Than Haplotype or Heteroplasmy Rate

Autor: Khan, Nahid Akhtar, Govindaraj, Periyasamy, Soumittra, Nagasamy, Sharma, Sonika, Srilekha, Sundaramoorthy, Ambika, Selvakumar, Vanniarajan, Ayyasamy, Meena, Angamuthu Kanikannan, Uppin, Megha, Sundaram, Challa, Bindu, Parayil Sankaran, Gayathri, Narayanappa, Taly, Arun, Thangaraj, Kumarasamy

Publikováno v: Investigative Ophthalmology & Visual Science
Investigative Ophthalmology & Visual Science, Association for Research in Vision and Ophthalmology, 2018, 59 (1), pp.382. ⟨10.1167/iovs.17-22983⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b3185c4d30a14d240710b6c1d6a0dfd3
https://hal-riip.archives-ouvertes.fr/pasteur-02020481

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Autor: Jérôme Lamoril, Caroline Schmitt, Zoubida Karim, Gaël Nicolas, Sylvie Simonin, Enrique Casalino, Hugo Lenglet, A. M. Robreau, Jean-Charles Deybach, Thomas Grange, Hana Manceau, Florian Bouchet-Crivat, Hervé Puy, Narjesse Karboul, Laurent Gouya, Katell Peoc'h, Arienne Mirmiran

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2018, 27 (7), pp.1164-1173. ⟨10.1093/hmg/ddy030⟩

International audience; Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS) gene. AIP is thought to display autosomal dominant inheritance with incompl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::660beae6582994fa1997a439bd1f4f8a
https://pubmed.ncbi.nlm.nih.gov/29360981

A nonparametric method for penetrance function estimation

Autor: Catherine Bonaïti-Pellié, Flora Alarcon, Hugo Harari-Kermadec

Publikováno v: Genetic Epidemiology
Genetic Epidemiology, 2009, 33 (1), pp.38-44. ⟨10.1002/gepi.20354⟩
Genetic Epidemiology, Wiley, 2009, 33 (1), pp.38-44. ⟨10.1002/gepi.20354⟩

International audience; In diseases caused by a deleterious gene mutation, knowledge of age-specific cumulative risks is necessary for medical management of mutation carriers. When pedigrees are ascertained through at least one affected individual, a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e856c686577cbf5a8cfc8c86dc6463b
https://doi.org/10.1002/gepi.20354

Inherited IL-12p40 Deficiency Genetic, Immunologic, and Clinical Features of 49 Patients From 30 Kindreds

Autor: Prando, C, Samarina, A, Bustamante, J, Boisson-Dupuis, S, Cobat, A, Picard, C, AlSum, Z, Al-Jumaah, S, Al-Hajjar, S, Frayha, H, Alangari, A, Al-Mousa, H, Mobaireek, KF, Ben-Mustapha, I, Adimi, P, Feinberg, J, de Suremain, M, Jannière, L, Filipe-Santos, O, Mansouri, N, Stephan, JL, Nallusamy, R, Kumararatne, DS, Bloorsaz, MR, Ben-Ali, M, Elloumi-Zghal, H, Chemli, J, Bouguila, J, Bejaoui, M, Alaki, E, AlFawaz, TS, Al Idrissi, E, ElGhazali, G, Pollard, AJ, Murugasu, B, Wah Lee, B, Halwani, R, Al-Zahrani, M, Al Shehri, MA, Bin-Hussain, I, Mahdaviani, SA, Parvaneh, N, Abel, L, Mansouri, D, Barbouche, R, Al-Muhsen, S, Casanova, JL

Publikováno v: Medicine
Medicine, Lippincott, Williams & Wilkins, 2013, 92 (2), pp.109-122. ⟨10.1097/MD.0b013e31828a01f9⟩
Medicine, 2013, 92 (2), pp.109-122. ⟨10.1097/MD.0b013e31828a01f9⟩

International audience; Autosomal recessive interleukin (IL)-12 p40 (IL-12p40) deficiency is a rare genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). We report the genetic, immunologic, and clinical features of 49 patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d82378bf65484943c3f8d734f21f2fb
https://hal-riip.archives-ouvertes.fr/pasteur-01375115

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Autor: Stephen Sanders, Rui Luo, Patrícia B. S. Celestino-Soper, Frédéric M. Vaz, Ronald J.A. Wanders, Anath C. Lionel, Robin P. Goin-Kochel, Edwin H. Cook, Richard J. Schroer, Arthur L. Beaudet, Roger E. Stevenson, Peter Szatmari, Richard E. Person, Marwan Shinawi, Stephen W. Scherer, Suzanne M. Leal, Kwanghyuk Lee, Ni Huang, Sara Violante, Guiqing Cai, Catalina Betancur, Bekim Sadikovic, Wendy Roberts, Kun Gao, Diane Treadwell-Deering, Daniel H. Geschwind, Chad A. Shaw, Joseph D. Buxbaum, Timothy J. Moss, Bridget A. Fernandez, Elsa Delaby, Emily L. Crawford, Charlene Lo, James S. Sutcliffe, Matthew E. Hurles, Jennifer R. German

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Molecular Genetics and Metabolism
35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD)
35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), Mar 2012, Charlotte, United States. pp.308-309
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Proceedings of the National Academy of Sciences of the United States of America, 109(21), 7974-7981. National Academy of Sciences
Paediatrics Publications

We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon ( TMLHE ) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6- N -trimethyllysine dioxygenase. De

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf2c686367385590122724d9f43b77e
https://www.hal.inserm.fr/inserm-00696112