Výsledky vyhledávání - "Lillquist, K."

Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation

Autor: Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID

Publikováno v: American journal of human genetics 80 (2007): 485–494.
info:cnr-pdr/source/autori:Deardoff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodriguez C, Arnedo M, Loeys B, Kloine AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID/titolo:Mutations in cohesion complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominat mental retardation/doi:/rivista:American journal of human genetics/anno:2007/pagina_da:485/pagina_a:494/intervallo_pagine:485–494/volume:80

Mutations in the cohesin regulators NIPBL and ESCO2 are causative of the Cornelia de Lange syndrome (CdLS) and Roberts or SC phocomelia syndrome, respectively. Recently, mutations in the cohesin complex structural component SMC1A have been identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::9d6b0f6552e08c7609471e95031520e9
https://publications.cnr.it/doc/55889

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Further delineation of the 22q13 deletion syndrome

Autor: Lindquist, Suzanne Granhøj, Kirchhoff, Marianne, Lundsteen, C, Pedersen, W, Erichsen, Gunna, Kristensen, K, Lillquist, K, Smedegaard, Heidi, Skov, L, Tommerup, Nanna Maj, Brøndum-Nielsen, Karen, Kristensen, Kurt

Publikováno v: Lindquist, S G, Kirchhoff, M, Lundsteen, C, Pedersen, W, Erichsen, G, Kristensen, K, Lillquist, K, Smedegaard, H, Skov, L, Tommerup, N M, Brøndum-Nielsen, K & Kristensen, K 2005, ' Further delineation of the 22q13 deletion syndrome ', Clinical Dysmorphology, vol. 14, no. 2, pp. 55-60 .

A chromosomal deletion syndrome associated with a 22q13 microdeletion has previously been reported in approximately 75 children. We report six cases from Denmark with a deletion of 22q13. One was cytogenetically visible by conventional karyotyping, o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::e337d9ac5e3d7cfff677d253081d913d
https://pure.au.dk/portal/da/publications/further-delineation-of-the-22q13-deletion-syndrome(252aead3-365f-482a-99dc-03ed794f419f).html

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Perinatal risk factors of adverse outcome in very preterm children: a role of initial treatment of respiratory insufficiency?

Publikováno v: Hansen, B M, Hoff, B, Uldall, P, Greisen, G, Kamper, J, Djernes, B, Hertel, J, Christensen, M F, Andersen, E, Lillquist, K, Verder, H, Peitersen, B, Grytter, C, Agertoft, L, Andersen, E A, Berg, A, Krag-Olsen, B, Sardeman, H, Jonsbo, F, Jørgensen, N F, Christensen, N C, Nielsen, F, Ebbesen, F, Pryds, O & Lange, A 2004, ' Perinatal risk factors of adverse outcome in very preterm children: a role of initial treatment of respiratory insufficiency? ' Acta Paediatr., vol. 93, no. 2, pp. 185-189 .

To investigate risk factors of adverse outcome in a cohort of very preterm children treated mainly with nasal continuous positive airway pressure (CPAP) during the neonatal course.In Denmark, preterm children are treated with nasal CPAP as a first ap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6b96e54106a16fbee25175f666adcef3
https://pubmed.ncbi.nlm.nih.gov/15046260

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Perinatal risk factors of adverse outcome in very preterm children:A role of initial treatment of respiratory insuffciency?

Publikováno v: Hansen, B M, Hoff, B, Uldall, P, Greisen, G, Kamper, J, Djernes, B, Hertel, J, Christensen, M F, Andersen, E, Lillquist, K, Verder, H, Peitersen, B, Grytter, C, Agertoft, L, Andersen, E A, Berg, A, Krag-Olsen, B, Sardeman, H, Jonsbo, F, Jørgensen, N F, Christensen, N C, Nielsen, F, Ebbesen, F, Pryds, O, Lange, A & nullETFOLGroup, D 2004, ' Perinatal risk factors of adverse outcome in very preterm children : A role of initial treatment of respiratory insuffciency? ' Acta Paediatr., vol. 93, no. 2, pp. 185-189 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::56d93e218bd7c0fd73733c2fb057fa55
https://pure.au.dk/portal/da/publications/perinatal-risk-factors-of-adverse-outcome-in-very-preterm-children(c2485a80-af7f-11da-bee9-02004c4f4f50).html

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[Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia]

Autor: Im, Friis, Ne, Larsen, Lillquist K, Peter Schwarz

Publikováno v: Europe PubMed Central

Familial hypocalciuric hypocalcaemia (FHH) is a rare disorder, inherited in an autosomal dominant manner. It has earlier been believed that neonatal severe hyperparathyroidism (NSHPT) is the homozygous form of FHH, but in this case story we show that

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c49e49f6a10a65df1019c692e8e6b58c
https://pubmed.ncbi.nlm.nih.gov/10962966

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