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pro vyhledávání: '"F, Skovby"'
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Autor:
J. Iger, F. Skovby, Rena E. Falk, C.A. Sims, S. Timshel, P.V. Bower, Ludwine Messiaen, P. Callum
Publikováno v:
Human Reproduction. 27:1223-1226
background: Screening of gamete donors can reduce but cannot eliminate the risks for medical problems in donor-conceived offspring. We present a case of gonosomal mosaicism discovered in an anonymous sperm donor after receiving two reports of neurofi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43c903e3d27a1f98ede012fd02e341f5
https://doi.org/10.1093/humrep/des014
https://doi.org/10.1093/humrep/des014
Autor:
Ralph P. Braun, Lars E. French, Shasa Hu, Jae Chan Park, Rudolf Happle, Massimiliano Scalvenzi, Jens Baumert, Gregor B.E. Jemec, Curdin Conrad, E.M.G.J. de Jong, Alessandra Latini, Heloisa Galvão do Amaral Campos, Druck Reinhardt Druck Basel, Alexander A. Navarini, E. Benfeldt, Iris Zalaudek, Gerardo Ferrara, Nelson Wolosker, Satz Mengensatzproduktion, Min Geol Lee, Jin Mo Park, Lilia Ramos dos Santos Guadanhim, Jan Skrzypek, Harald Löffler, Ediléia Bagatin, Rosana Bortoli Buffon, Isabel Kolm, Karl-Heinz Grzeschik, Till Geimer, Carlos Cohen, K. Eichhorn, F. Ballanger, Tae-Gyun Kim, F. Skovby, Fernanda Consolim Colombo, Marco Ardigò, Carola Berking, José Luiz Orlando, Thomas Ruzicka, Christian Kunte, Katrin Kerl, Nam Hoon Cho, Carlo Cota, Uwe Paasch, José Guilherme Mendes Pereira Caldas, Cristhine Souza Leão Kamamoto, Frank Oeffner, P.C.M. van de Kerkhof, M. Woitek, Se Heon Kim, M. Blomberg, Kenji Nishinari, Isa Mara Barraviera, Paolo Romanelli, Marilia Costa Dias, Michael J. Flaig, Maria Miteva, M.E.A. de Jager, Leonardo Araújo Pinto, B. Dréno, Thaís Corsetti Grazziotin, Tino Wetzig, Arne König, T. Simonart, Jan-Christoph Simon, J.M. Nguyen, Jivko Kamarashev, Monika-Hildegard Schmid-Wendtner, Katharina J. Gauwerky, Imma Savarese, Giuseppe Argenziano, A. Khammari, Ximena Calvo, Deirdre Nathalie Dufour, Lars Erik Bryld, E.M. Jeppesen, Daniele Torchia, Adriana Sanudo, M.M.B. Seyger, Mi Ryung Roh
Publikováno v:
Dermatology. 220:381-384
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07b78ab8ab90ce948dcc9434597af5e5
https://doi.org/10.1159/000315669
https://doi.org/10.1159/000315669
Publikováno v:
Dermatology. 220:297-305
Fibroblast growth factor receptor 3 (FGFR3) gene mutations in the germline are well-known causes of skeletal syndromes. Somatic FGFR3 mutations have been found in malignant neoplasms and more recently in several cutaneous elements. We present a 14-ye
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b59f65a7f418f3655cfbbadb1aae9bd1
https://doi.org/10.1159/000297575
https://doi.org/10.1159/000297575
Publikováno v:
Journal of Inherited Metabolic Disease. 30:248-255
Massive urinary excretion of xanthurenic acid, 3-hydroxykynurenine and kynurenine, known as xanthurenic aciduria or hydroxykynureninuria, in a young Somali boy suggested kynureninase deficiency. Mutation analysis of KYNU encoding kynureninase of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00abd6098a0c038b62e6db8de076e5bf
https://doi.org/10.1007/s10545-007-0396-2
https://doi.org/10.1007/s10545-007-0396-2
Publikováno v:
Clinical genetics. 89(3)
The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1) worldwide. NF1 is caused by loss-of-function mutations in the NF1 gene and more than 1000 NF1 mutations are identified. Analysis of the donor sperm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::afb7124a21c46aff76fbb9a05f396d4d
https://pubmed.ncbi.nlm.nih.gov/25872886
https://pubmed.ncbi.nlm.nih.gov/25872886
Publikováno v:
American Journal of Medical Genetics. 73:36-40
We describe a patient with bilateral extreme microphthalmia with bilateral congenital glaucoma, bilateral medial oblique facial cleft ending in lid colobomas, bilateral stenosis of the choanae, bifid uvula, frontal encephalocele, and premature cranio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf0b0c1d38f495f263be10cda6f8e263
https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<36::aid-ajmg8>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19971128)73:1<36::aid-ajmg8>3.0.co
Publikováno v:
Annals of human genetics. 71(Pt 6)
Summary Background: Haploinsufficiency of the NSD1 gene leads to Sotos syndrome (Sos), which is characterised by excessive growth, especially during childhood, distinct craniofacial features and variable degree of mental impairment. A wide spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0231962aa79f28954c2f54f20f863bc1
https://pubmed.ncbi.nlm.nih.gov/17561922
https://pubmed.ncbi.nlm.nih.gov/17561922
Autor:
Henrik Simonsen, Brandt Nj, D. M. Hougaard, B. Norgaard-Pedersen, Ernst Christensen, A. M. Lund, B. S. Andresen, F. Skovby, K. Skogstrand, Niels Gregersen, U. G. Jensen
Publikováno v:
Neuropediatrics. 37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7c38d1d9d7306a24a854fd096cd30ed
https://doi.org/10.1055/s-2006-943695
https://doi.org/10.1055/s-2006-943695
Publikováno v:
Neurology, 62(11), 2077-2081. Lippincott Williams and Wilkins
Objective: To determine the enzymatic defect in a patient with ataxia, dysarthric speech, dry skin, hypotonia, and absent reflexes. The patient was previously diagnosed with a presumed deficiency of trihydroxycholestanoyl-CoA oxidase. Background: Per
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2aa22ef705a8da954c7297922930dd2
https://pubmed.ncbi.nlm.nih.gov/15184617
https://pubmed.ncbi.nlm.nih.gov/15184617