المؤلفون: Forde, C, Burkitt-Wright, E, Turnpenny, PD, Haan, E, Ealing, J, Mansour, S, Holder, M, Lahiri, N, Dixit, A, Procter, A, Pacot, L, Vidaud, D, Capri, Y, Gerard, M, Dollfus, H, Schaefer, E, Quelin, C, Sigaudy, S, Busa, T, Vera, G, Damaj, L, Messiaen, L, Stevenson, DA, Davies, P, Palmer-Smith, S, Callaway, A, Wolkenstein, P, Pasmant, E, Upadhyaya, M

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest; Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; et al. Forde, C; Burkitt-Wright, E; Turnpenny, PD; Haan, E; Ealing, J; Mansour, S; Holder, M; Lahiri, N; Dixit, A; Procter, A; Pacot, L; Vidaud, D; Capri, Y; Gerard, M; Dollfus, H; Schaefer, E; Quelin, C; Sigaudy, S; Busa, T; Vera, G; Damaj, L; Messiaen, L; Stevenson, DA; Davies, P; Palmer-Smith, S; Callaway, A; Wolkenstein, P; Pasmant, E; Upadhyaya, M (2022) Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study. Eur J Hum Genet, 30 (3). pp. 291-297. ISSN 1476-5438 https://doi.org/10.1038/s41431-021-01015-4Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.1038/s41431-021-01015-4Test
https://openaccess.sgul.ac.uk/id/eprint/113939Test/
https://openaccess.sgul.ac.uk/id/eprint/113939/1/s41431-021-01015-4.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/113939/6/41431_2021_1015_MOESM1_ESM.pdfTest

المؤلفون: Joueidi, Y., Peoc'H, K., Le Lous, Maela, Bouzille, Guillaume, Rousseau, Chloé, Bardou-Jacquet, Edouard, Bendavid, Claude, Damaj, L, Fromenty, B., Lavoué, Vincent, Moreau, Caroline

المساهمون: Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Hôpital Beaujon, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique EHESP (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: ISSN: 0301-2115.

مصطلحات موضوعية: Acute fatty liver of pregnancy, Delivery, Fetal and maternal outcomes, Liver, Metabolic disease, Swansea criteria, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32622104; hal-02931946; https://hal.science/hal-02931946Test; https://hal.science/hal-02931946/documentTest; https://hal.science/hal-02931946/file/Joueidi-2020-Maternal%20and%20neonatal%20outcomes%20and%20prognostic%20factors%20in%20acute%20fatty%20liver.pdfTest; PUBMED: 32622104; WOS: 000573036000031

الإتاحة: https://doi.org/10.1016/j.ejogrb.2020.06.052Test
https://hal.science/hal-02931946Test
https://hal.science/hal-02931946/documentTest
https://hal.science/hal-02931946/file/Joueidi-2020-Maternal%20and%20neonatal%20outcomes%20and%20prognostic%20factors%20in%20acute%20fatty%20liver.pdfTest

المؤلفون: Leclerc, D., Goujon, L., Jaillard, S., Nouyou, B., Cluzeau, L., Damaj, L., Dubourg, C., Etcheverry, A., Levade, T., Froissart, R., Dreano, S., Guillory, X., Eriksson, Leif A, 1964, Launay, E., Mouriaux, F., Belaud-Rotureau, M. A., Odent, S., Gilot, D.

المصدر: Crispr Journal. 6(1)

مصطلحات موضوعية: Medical Genetics, Medicinsk genetik, crispr-cas9 nucleases, skeletal-muscle, genomic DNA, base, deficiency, expression, cytosine, brain, mice, Genetics & Heredity

الوصول الحر: https://gup.ub.gu.se/publication/324924Test

المؤلفون: Valayannopoulos, V., Schiff, M., Guffon, N., Nadjar, Y., Garcia-Cazorla, A., Martinez-Pardo Casanova, M., Cano, A., Couce, M. L., Dalmau, J., Pena-Quintana, L., Rigalleau, Vincent, Touati, G., Aldamiz-Echevarria, L., Cathebras, P., Eyer, D., Brunet, D., Damaj, L., Dobbelaere, D., Gay, C., Hieronimus, S., Levrat, V., Maillot, F.

المساهمون: Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Robert Debré, Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Université Francois Rabelais Tours

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-03169091Test ; Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.66. ⟨10.1186/s13023-019-1036-2⟩.

مصطلحات موضوعية: Betaine anhydrous, Efficacy, Homocystinuria, RoCH registry, Safety, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, [SDV.SP.PHARMA]Life Sciences [q-bio]/Pharmaceutical sciences/Pharmacology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

العلاقة: hal-03169091; https://hal.science/hal-03169091Test; https://hal.science/hal-03169091/documentTest; https://hal.science/hal-03169091/file/BPH_OJRD_2019_Valayannopoulos.pdfTest

الإتاحة: https://doi.org/10.1186/s13023-019-1036-2Test
https://hal.science/hal-03169091Test
https://hal.science/hal-03169091/documentTest
https://hal.science/hal-03169091/file/BPH_OJRD_2019_Valayannopoulos.pdfTest

المؤلفون: Yverneau, M., Leroux, S., Imbard, A., Gleich, F., Arion, A., Moreau, C., Nassogne, M.C., Szymanowski, M., Tardieu, M., Touati, G., Bueno, M., Chapman, K.A., Chien, Y.H., Huemer, M., Ješina, P., Janssen, M.C.H., Kölker, S., Kožich, V., Lavigne, C., Lund, A.M., Mochel, F., Morris, A., Pons, M.R., Porras-Hurtado, G.L., Benoist, J.F., Damaj, L., Schiff, M.

المصدر: Journal of Inherited Metabolic Disease, 45, 4, pp. 848-861

مصطلحات موضوعية: Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences

العلاقة: https://repository.ubn.ru.nl/handle/2066/286882Test; http://dx.doi.org/10.1002/jimd.12504Test

الإتاحة: https://doi.org/10.1002/jimd.12504Test
https://repository.ubn.ru.nl/handle/2066/286882Test

المؤلفون: Kumble, S., Levy, A.M., Punetha, J., Gao, H., Ah Mew, N., Anyane-Yeboa, K., Benke, P.J., Berger, S.M., Bjerglund, L., Campos-Xavier, B., Ciliberto, M., Cohen, J.S., Comi, A.M., Curry, C., Damaj, L., Denommé-Pichon, A.S., Emrick, L., Faivre, L., Fasano, M.B., Fiévet, A., Finkel, R.S., García-Miñaúr, S., Gerard, A., Gomez-Puertas, P., Guillen Sacoto, M.J., Hoffman, T.L., Howard, L., Iglesias, A.D., Izumi, K., Larson, A., Leiber, A., Lozano, R., Marcos-Alcalde, I., Mintz, C.S., Mullegama, S.V., Møller, R.S., Odent, S., Oppermann, H., Ostergaard, E., Pacio-Míguez, M., Palomares-Bralo, M., Parikh, S., Paulson, A.M., Platzer, K., Posey, J.E., Potocki, L., Revah-Politi, A., Rio, M., Ritter, A.L., Robinson, S., Rosenfeld, J.A., Santos-Simarro, F., Sousa, S.B., Wéber, M., Xie, Y., Chung, W.K., Brown, N.J., Tümer, Z.

المساهمون: Undiagnosed Diseases Network

المصدر: Human mutation, vol. 43, no. 2, pp. 266-282

مصطلحات موضوعية: Autism Spectrum Disorder/genetics, Dwarfism, Humans, Intellectual Disability/genetics, Muscle Hypotonia, Neurodevelopmental Disorders/genetics, Scoliosis, Seizures, Weight Gain, QRICH1, hypotonia, intellectual disability, short stature, variable expressivity, variant

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34859529; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; https://serval.unil.ch/notice/serval:BIB_4A256FE26284Test; urn:issn:1059-7794

الإتاحة: https://doi.org/10.1002/humu.24308Test
https://serval.unil.ch/notice/serval:BIB_4A256FE26284Test

المؤلفون: Pacot, L., Vidaud, D., Sabbagh, A., Laurendeau, I., Briand-Suleau, A., Coustier, A., Maillard, T., Barbance, C., Morice-Picard, F., Sigaudy, S., Glazunova, O. O., Damaj, L., Layet, V., Quelin, C., Gilbert-Dussardier, B., Audic, F., Dollfus, H., Guerrot, A. M., Lespinasse, J., Julia, S., Vantyghem, Marie-Christine, Drouard, M., Lackmy, M., Leheup, B., Alembik, Y., Lemaire, A., Nitschke, P., Petit, Florence, Dieux, Anne, Mutez, Eugenie, Taieb, A., Fradin, M., Capri, Y., Nasser, H., Ruaud, L., Dauriat, B., Bourthoumieu, S., Genevieve, D., Audebert-Bellanger, S., Nizon, M., Stoeva, R., Hickman, G., Nicolas, G., Mazereeuw-Hautier, J., Jannic, A., Ferkal, S., Parfait, B., Vidaud, M., Wolkenstein, P., Pasmant, E.

المساهمون: Université de Lille, CHU Lille, Recherche translationnelle sur le diabète (RTD) - U1190, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 deletion, genotype-phenotype correlation, neurofibromas, NFs, malignant peripheral nerve sheath tumors, MPNSTs, tumor predisposition, learning disabilities, dysmorphism, skeletal abnormalities, cardiovascular abnormalities

العلاقة: Cancers; http://hdl.handle.net/20.500.12210/84173Test

الإتاحة: https://doi.org/20.500.12210/84173Test
https://hdl.handle.net/20.500.12210/84173Test

المؤلفون: Toquet, S., Spodenkiewicz, M., Douillard, C., Maillot, F., Arnoux, J. B., Damaj, L., Odent, S., moreau, caroline, Redonnet-Vernhet, I., Mesli, S., Servais, A., Noel, E., Charriere, S., Rigalleau, V., Lavigne, C., Kaphan, E., Roubertie, A., Besson, G., Bigot, A., Servettaz, A., Mochel, F., Garnotel, R.

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: urea cycle disorders, late-onset diagnosis, inherited metabolic diseases, hyperammonemia, adults

العلاقة: J Inherit Metab Dis; http://hdl.handle.net/20.500.12210/69416Test

الإتاحة: https://doi.org/20.500.12210/69416Test
https://hdl.handle.net/20.500.12210/69416Test

المؤلفون: Kumble, S, Levy, AM, Punetha, J, Gao, H, Ah Mew, N, Anyane-Yeboa, K, Benke, PJ, Berger, SM, Bjerglund, L, Campos-Xavier, B, Ciliberto, M, Cohen, JS, Comi, AM, Curry, C, Damaj, L, Denomme-Pichon, A-S, Emrick, L, Faivre, L, Fasano, MB, Fievet, A, Finkel, RS, Garcia-Minaur, S, Gerard, A, Gomez-Puertas, P, Guillen Sacoto, MJ, Hoffman, TL, Howard, L, Iglesias, AD, Izumi, K, Larson, A, Leiber, A, Lozano, R, Marcos-Alcalde, I, Mintz, CS, Mullegama, SV, Moller, RS, Odent, S, Oppermann, H, Ostergaard, E, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Paulson, AM, Platzer, K, Posey, JE, Potocki, L, Revah-Politi, A, Rio, M, Ritter, AL, Robinson, S, Rosenfeld, JA, Santos-Simarro, F, Sousa, SB, Weber, M, Xie, Y, Chung, WK, Brown, NJ, Tumer, Z

العلاقة: Kumble, S., Levy, A. M., Punetha, J., Gao, H., Ah Mew, N., Anyane-Yeboa, K., Benke, P. J., Berger, S. M., Bjerglund, L., Campos-Xavier, B., Ciliberto, M., Cohen, J. S., Comi, A. M., Curry, C., Damaj, L., Denomme-Pichon, A. -S., Emrick, L., Faivre, L., Fasano, M. B. ,. Tumer, Z. (2021). The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. HUMAN MUTATION, 43 (2), pp.266-282. https://doi.org/10.1002/humu.24308Test.; http://hdl.handle.net/11343/311202Test

الإتاحة: https://doi.org/10.1002/humu.24308Test
http://hdl.handle.net/11343/311202Test

المؤلفون: Keil, S., Anjema, K., van Spronsen, F., Lambruschini, N., Burlina, A., Belanger-Quintana, A., Couce, L., Feillet, F., Cerone, R., Lotz-Havla, A., Muntau, C., Bosch, M., Meli, C., Billette de Villemeur, T., Kern, I., Riva, E., Giovannini, M., Damaj, L., Leuzzi, V., Blau, N.

المساهمون: University Children’s Hospital Zurich, Regensburg University Medical Center, Beatrix Children's Hospital/University Medical Center Groningen, Hospital Sant Joan de Déu Barcelona, Division of Inherited Metabolic Diseases Padua, Università degli Studi di Padova = University of Padua (Unipd), Hospital Universitario Ramón y Cajal Madrid, Universidad de Alcalá - University of Alcalá (UAH), Complejo Hospitalario Universitario de Santiago de Compostela Saint-Jacques-de-Compostelle, Espagne (CHUS), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), IRCCS Istituto Giannina Gaslini, Genova, Dr von Hauner Children's Hospital Munich, Germany, Ludwig Maximilian University Munich = Ludwig Maximilians Universität München (LMU), Emma Children's Hospital, Academic Medical Center, University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Policlinico University Hospital Catania, Service: neuropédiatrie pathologie du développement, Université Pierre et Marie Curie - Paris 6 (UPMC), Geneva University Hospital (HUG), Pneumologia Ospedale San Paolo, Università degli Studi di Milano = University of Milan (UNIMI), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Ponchaillou, Department of Pediatrics Sapienza Roma, Università degli Studi di Roma "La Sapienza" = Sapienza University Rome (UNIROMA), University Children's Hospital Heidelberg, Center for Child Well-Being and Development (CCWD), Universität Zürich Zürich = University of Zurich (UZH)

المصدر: ISSN: 0031-4005.

مصطلحات موضوعية: BH4, Hyperphenylalaninemia, Pharmacological treatment, PKU, Tetrahydrobiopterin, [SDV]Life Sciences [q-bio]

العلاقة: hal-01704390; https://hal.univ-lorraine.fr/hal-01704390Test

الإتاحة: https://doi.org/10.1542/peds.2012-3291Test
https://hal.univ-lorraine.fr/hal-01704390Test