نتائج البحث - "Hertecant, J"

1

دورية أكاديمية

Human genome meeting 2016

المؤلفون: Srivastava, AK, Wang, Y, Huang, R, Skinner, C, Thompson, T, Pollard, L, Wood, T, Luo, F, Stevenson, R, Polimanti, R, Gelernter, J, Lin, X, Lim, IY, Wu, Y, Teh, AL, Chen, L, Aris, IM, Soh, SE, Tint, MT, MacIsaac, JL, Yap, F, Kwek, K, Saw, SM, Kobor, MS, Meaney, MJ, Godfrey, KM, Chong, YS, Holbrook, JD, Lee, YS, Gluckman, PD, Karnani, N, GUSTO study group, Kapoor, A, Lee, D, Chakravarti, A, Maercker, C, Graf, F, Boutros, M, Stamoulis, G, Santoni, F, Makrythanasis, P, Letourneau, A, Guipponi, M, Panousis, N, Garieri, M, Ribaux, P, Falconnet, E, Borel, C, Antonarakis, SE, Kumar, S, Curran, J, Blangero, J, Chatterjee, S, Akiyama, J, Auer, D, Berrios, C, Pennacchio, L, Donti, TR, Cappuccio, G, Miller, M, Atwal, P, Kennedy, A, Cardon, A, Bacino, C, Emrick, L, Hertecant, J, Baumer, F, Porter, B, Bainbridge, M, Bonnen, P, Graham, B, Sutton, R, Sun, Q, Elsea, S, Hu, Z, Wang, P, Zhu, Y, Zhao, J, Xiong, M, Bennett, David A, Hidalgo-Miranda, A, Romero-Cordoba, S, Rodriguez-Cuevas, S, Rebollar-Vega, R, Tagliabue, E, Iorio, M, D’Ippolito, E, Baroni, S, Kaczkowski, B, Tanaka, Y, Kawaji, H, Sandelin, A, Andersson, R, Itoh, M, Lassmann, T, The FANTOM5 Consortium, Hayashizaki, Y, Carninci, P

المصدر: Human Genomics. 10(Suppl 1)

مصطلحات موضوعية: Cancer, Biotechnology, Rare Diseases, Human Genome, Clinical Research, Prevention, Genetics, 2.1 Biological and endogenous factors, Aetiology, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/701873z5Test

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2

دورية أكاديمية

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

المؤلفون: van Wegberg A. M. J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M. S., Maillot F., van Spronsen F. J., Ahring K., Al Mutairi F., Arnoux J. B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H. B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M. L., Cozens A., Dahri S., Das A. M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F. G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F. T., Enns G. M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S. C., Haas D., Handoom B., Harte T. B., Hendriksz C., Heredia R. S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S. S., Jesina P., Jonsson J. J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C. M. A., MacDonald A., Megdad E. M., Mitchell J., Mochel F., Moreno-Lozano P. J., Morris A., Moura de Souza C. F., Munoz T., Nevalainen P. I., Oscarson M., Ounap K., Paci S., Pastores G. M., Pearl P. L., Piazzon F. B., Pitt J., Poon G., Porta F., Presner N., Rabaty A. A., Reinson K., Reismann P., Rink T., Rocha J. C., Rodrigues E., Saini A. G., Sanchez-Valle A., Sander J., Sarkhail P., Schwartz I. V. D., Sharma R., Sheng B., Siriwardena K., Sirrs S., Sjarif D. R., Sondheimer N., Sparkes R., Specola N., Stepien K. M., Szatmari I., Tchan M., Tkemaladze T., Tran C., Valle M. G., Vela-Amieva M., Verdaguer M. L., Vergano S. A., Vermeersch P., Vulturar R., Wagenmakers M. A. E. M., Weinhold N., Williams A. B., Wilson W. G., Zafeiriou D., Zhang H., Ziagaki A., Zolkowska J.

المساهمون: van Wegberg A.M.J., Trefz F., Gizewska M., Ahmed S., Chabraoui L., Zaki M.S., Maillot F., van Spronsen F.J., Ahring K., Al Mutairi F., Arnoux J.B., Ballhausen D., Baruteau J., Bernstein L., Bijarnia-Mahay S., Boemer F., Bordugo A., Brodosi L., Brooks S., Chew H.B., Chyz K., Coker M., Collingwood C., Cornejo V., Couce M.L., Cozens A., Dahri S., Das A.M., de Laet C., de las Heras Montero J., de Vreugd A., Debray F.G., Dercksen M., Descartes M., Diogo L., Drogari E., Eiroa H., Eminoglu F.T., Enns G.M., Eyskens F., Feillet F., Ford S., Franzson L., Freisinger P., Garcia P., Grafakou O., Gramer G., Gray S., Groselj U., Grunert S.C., Haas D., Handoom B., Harte T.B., Hendriksz C., Heredia R.S., Hertecant J., Hoi-Yee Wu T., Inwood A., Jamuar S.S., Jesina P., Jonsson J.J., Jovanovic A., Kern I., Kilavuz S., Knerr I., Kor D., Korycinska-Chaaban D., Kreile M., Kumru B., Lanpher B., Lapatto R., Lavigne C., Leao-Teles E., Leuzzi V., Longo N., Lopez-Uriarte A., Lubout C.M.A., MacDonald A., Megdad E.M., Mitchell J., Mochel F., Moreno-Lozano P.J., Morris A., Moura de Souza C.F., Munoz T., Nevalainen P.I., Oscarson M., Ounap K., Paci S., Pastores G.M., Pearl P.L., Piazzon F.B., Pitt J., Poon G., Porta F., Presner N., Rabaty A.A., Reinson K., Reismann P., Rink T.

مصطلحات موضوعية: immigrant, late diagnosi, NBS, phenylketonuria, refugee

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34474089; info:eu-repo/semantics/altIdentifier/wos/WOS:000719251000042; volume:239; firstpage:231; lastpage:234.e2; numberofpages:6; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11585/928082Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118320261; https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

الإتاحة: https://doi.org/10.1016Test/j.jpeds.2021.08.070
https://hdl.handle.net/11585/928082Test
https://www.jpeds.com/article/S0022-3476Test(21)00855-6/fulltext

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3

دورية أكاديمية

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

المساهمون: Cuvertino S., Hartill V., Colyer A., Garner T., Nair N., Al-Gazali L., Canham N., Faundes V., Flinter F., Hertecant J., Holder-Espinasse M., Jackson B., Lynch S.A., Nadat F., Narasimhan V.M., Peckham M., Sellers R., Seri M., Montanari F., Southgate L., Squeo G.M., Trembath R., van Heel D., Venuto S., Weisberg D., Stals K., Ellard S., Barton A., Kimber S.J., Sheridan E., Merla G., Stevens A., Johnson C.A., Banka S.

مصطلحات موضوعية: histone 3 lysine 4 methyltransferase, intrinsically disordered region, Kabuki syndrome, KMT2D, multiple congenital anomaly

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31949313; info:eu-repo/semantics/altIdentifier/wos/WOS:000508167800002; volume:22; issue:5; firstpage:867; lastpage:877; numberofpages:11; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11585/740276Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078007652; https://www.nature.com/articles/s41436-019-0743-3Test

الإتاحة: https://doi.org/10.1038/s41436-019-0743-3Test
http://hdl.handle.net/11585/740276Test
https://www.nature.com/articles/s41436-019-0743-3Test

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4

دورية أكاديمية

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

المصدر: Genetics in Medicine (2021)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10133042/1/s41436-021-01260-4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10133042Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10133042/1/s41436-021-01260-4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10133042Test/

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5

دورية أكاديمية

Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations.

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113002/1/jcm-10-00481-v3.pdfTest; Aldrian, D; Vogel, GF; Frey, TK; Ayyıldız Civan, H; Aksu, AÜ; Avitzur, Y; Ramos Boluda, E; Çakır, M; Demir, AM; Deppisch, C; et al. Aldrian, D; Vogel, GF; Frey, TK; Ayyıldız Civan, H; Aksu, AÜ; Avitzur, Y; Ramos Boluda, E; Çakır, M; Demir, AM; Deppisch, C; Duba, H-C; Düker, G; Gerner, P; Hertecant, J; Hornová, J; Kathemann, S; Koeglmeier, J; Koutroumpa, A; Lanzersdorfer, R; Lev-Tzion, R; Lima, R; Mansour, S; Meissl, M; Melek, J; Miqdady, M; Montoya, JH; Posovszky, C; Rachman, Y; Siahanidou, T; Tabbers, M; Uhlig, HH; Ünal, S; Wirth, S; Ruemmele, FM; Hess, MW; Huber, LA; Müller, T; Sturm, E; Janecke, AR (2021) Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations. J Clin Med, 10 (3). p. 481. ISSN 2077-0383 https://doi.org/10.3390/jcm10030481Test SGUL Authors: Mansour, Sahar

الإتاحة: https://doi.org/10.3390/jcm10030481Test
https://openaccess.sgul.ac.uk/id/eprint/113002Test/
https://openaccess.sgul.ac.uk/id/eprint/113002/1/jcm-10-00481-v3.pdfTest

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6

دورية أكاديمية

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies

المؤلفون: Iqbal, M., Maroofian, R., Çavdarlı, B., Riccardi, F., Field, M., Banka, S., Bubshait, D.K., Li, Y., Hertecant, J., Baig, S.M., Dyment, D., Efthymiou, S., Abdullah, U., Makhdoom, E.U.H., Ali, Z., Scherf de Almeida, T, Molinari, F., Mignon-Ravix, C., Chabrol, B., Antony, J., Ades, L., Pagnamenta, A.T., Jackson, A., Douzgou, S., Beetz, C., Karageorgou, V., Vona, B., Rad, A., Baig, J.M., Sultan, T., Alvi, J.R., Maqbool, S., Rahman, F., Toosi, M.B., Ashrafzadeh, F., Imannezhad, S., Karimiani, E.G., Sarwar, Y., Khan, S., Jameel, M., Noegel, A.A., Budde, B., Altmüller, J., Motameny, S., Höhne, W., Houlden, H., Nürnberg, P., Wollnik, B., Villard, L., Alkuraya, F.S., Osmond, M., Hussain, M.S., Yigit, G.

مصطلحات موضوعية: Technology Platforms

وصف الملف: application/pdf

العلاقة: http://edoc.mdc-berlin.de/20487/1/20487oa.pdfTest; http://edoc.mdc-berlin.de/20487/7/20487suppl.pdfTest; Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies. Iqbal, M. and Maroofian, R. and Çavdarlı, B. and Riccardi, F. and Field, M. and Banka, S. and Bubshait, D.K. and Li, Y. and Hertecant, J. and Baig, S.M. and Dyment, D. and Efthymiou, S. and Abdullah, U. and Makhdoom, E.U.H. and Ali, Z. and Scherf de Almeida, T and Molinari, F. and Mignon-Ravix, C. and Chabrol, B. and Antony, J. and Ades, L. and Pagnamenta, A.T. and Jackson, A. and Douzgou, S. and Beetz, C. and Karageorgou, V. and Vona, B. and Rad, A. and Baig, J.M. and Sultan, T. and Alvi, J.R. and Maqbool, S. and Rahman, F. and Toosi, M.B. and Ashrafzadeh, F. and Imannezhad, S. and Karimiani, E.G. and Sarwar, Y. and Khan, S. and Jameel, M. and Noegel, A.A. and Budde, B. and Altmüller, J. and Motameny, S. and Höhne, W. and Houlden, H. and Nürnberg, P. and Wollnik, B. and Villard, L. and Alkuraya, F.S. and Osmond, M. and Hussain, M.S. and Yigit, G. Genetics in Medicine 23 (11): 2138-2149. November 2021

الإتاحة: https://doi.org/10.1038/s41436-021-01260-4Test
http://edoc.mdc-berlin.de/20487Test/
https://edoc.mdc-berlin.de/20487Test/
http://edoc.mdc-berlin.de/20487/1/20487oa.pdfTest
http://edoc.mdc-berlin.de/20487/7/20487suppl.pdfTest

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7

دورية أكاديمية

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

المؤلفون: van Wegberg, A.M.J., Trefz, F., Gizewska, M., Ahmed, S., Chabraoui, L., Zaki, M.S., Maillot, F., van Spronsen, F.J., Ahring, K., Al Mutairi, F., Arnoux, J.B., Ballhausen, D., Baruteau, J., Bernstein, L., Bijarnia-Mahay, S., Boemer, François, Bordugo, A., Brodosi, L., Brooks, S., Chew, H.B., Chyz, K., Coker, M., Collingwood, C., Cornejo, V., Couce, M.L., Cozens, A., Dahri, S., Das, A.M., de Laet, C., de las Heras Montero, J., de Vreugd, A., Debray, François-Guillaume, Dercksen, M., Descartes, M., Diogo, L., Drogari, E., Eiroa, H., Eminoglu, F.T., Enns, G.M., Eyskens, F., Feillet, F., Ford, S., Franzson, L., Freisinger, P., Garcia, P., Grafakou, O., Gramer, G., Gray, S., Groselj, U., Grünert, S.C., Haas, D., Handoom, B., Harte, T.B., Hendriksz, C., Heredia, R.S., Hertecant, J., Hoi-Yee Wu, T., Inwood, A., Jamuar, S.S., Jesina, P., Jonsson, J.J., Jovanovic, A., Kern, I., Kilavuz, S., Knerr, I., Kor, D., Korycinska-Chaaban, D., Kreile, M., Kumru, B., Lanpher, B., Lapatto, R., Lavigne, C., Leao-Teles, E., Leuzzi, V., Longo, N., Lopez-Uriarte, A., Lubout, C.M.A., MacDonald, A., Megdad, E.M., Mitchell, J., Mochel, F., Moreno-Lozano, P.J., Morris, A., Moura de Souza, C.F., Munoz, T., Nevalainen, P.I., Oscarson, M., Õunap, K., Paci, S., Pastores, G.M., Pearl, P.L., Piazzon, F.B., Pitt, J., Poon, G., Porta, F., Presner, N., Rabaty, A.A., Reinson, K., Reismann, P., Rink, T., Rocha, J.C., Rodrigues, E., Saini, A.G., Sanchez-Valle, A., Sander, J., Sarkhail, P., Schwartz, I.V.D., Sharma, R., Sheng, B., Siriwardena, K., Sirrs, S., Sjarif, D.R., Sondheimer, N., Sparkes, R., Specola, N., Stepien, K.M., Szatmari, I., Tchan, M., Tkemaladze, T., Tran, C., Valle, M.G., Vela-Amieva, M., Verdaguer, M.L., Vergano, S.A., Vermeersch, P., Vulturar, R., Wagenmakers, M.A.E.M., Weinhold, N., Williams, A.B., Wilson, W.G., Zafeiriou, D., Zhang, H., Ziagaki, A., Zolkowska, J., Study Group on Missed PKU and Missed to Follow-Up

المصدر: Journal of Pediatrics, 239, 231 - 234.e2 (2021)

مصطلحات موضوعية: immigrant, late diagnosis, NBS, phenylketonuria, refugee, phenylalanine, adolescent, adult, Article, asymptomatic disease, autism, child, developmental delay, epilepsy, Europe, false negative result, family, female, health program, health survey, human, inborn error of metabolism, infant, major clinical study, male, missed diagnosis, newborn, newborn screening, North America, Pacific islands, patient referral, questionnaire, symptom, Syrian Arab Republic, delayed diagnosis, global health, health care delivery, health care policy, health care survey, migrant, organization and management, preschool child, young adult, Adolescent, Adult, Child, Child, Preschool, Delayed Diagnosis, Emigrants and Immigrants, Female, Global Health, Health Care Surveys, Health Policy, Health Services Accessibility, Humans, Infant, Infant, Newborn, Male, Neonatal Screening, Phenylketonurias, Young Adult, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

العلاقة: urn:issn:0022-3476; urn:issn:1097-6833

الوصول الحر: https://orbi.uliege.be/handle/2268/312112Test

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8

دورية أكاديمية

Untreated PKU patients without intellectual disability: What do they teach us?

المساهمون: van Vliet, D., van Wegberg, A. M. J., Ahring, K., Bik-Multanowski, M., Casas, K., Didycz, B., Djordjevic, M., Hertecant, J. L., Leuzzi, V., Mathisen, P., Nardecchia, F., Powell, K. K., Rutsch, F., Stojiljkovic, M., Trefz, F. K., Usurelu, N., Wilson, C., van Karnebeek, C. D., Hanley, W. B., van Spronsen, F. J.

مصطلحات موضوعية: Brain vulnerability, Inter-individual difference, Late-treated, Outcome, Phenylketonuria, Untreated

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31731404; info:eu-repo/semantics/altIdentifier/wos/WOS:000502274600023; volume:11; issue:11; firstpage:2572; numberofpages:10; journal:NUTRIENTS; http://hdl.handle.net/11573/1349390Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074474244

الإتاحة: https://doi.org/10.3390/nu11112572Test
http://hdl.handle.net/11573/1349390Test

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