Výsledky vyhledávání - "Opheldering van erfelijke ziekten en hun moleculaire diagnostiek"

Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation

Autor: Hans F. A. Vasen, J. T. Wijnen, C. Tops, Anja Wagner, Aad Tibben, J. G. M. Klijn, C. A. Van Der Meer, Martinus F. Niermeijer, K Zwinderman, Hanne Meijers-Heijboer, M Kets

Publikováno v: Journal of medical genetics, 39(11), 833-837. BMJ Publishing Group
Journal of Medical Genetics, 39, 833-837. BMJ Publishing Group
Journal of Medical Genetics, 39, 833-7
Journal of Medical Genetics, 39, 11, pp. 833-7

About 5% of colorectal cancers are associated with the autosomal dominantly inherited cancer susceptibility syndrome hereditary non-polyposis colorectal cancer (HNPCC).1,2 HNPCC is characterised by a high risk of developing colorectal cancer and endo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69001ce53af807830d45137c93cd4baa
https://doi.org/10.1136/jmg.39.11.833

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A novel mutation of the epithelial Na + channel causes type 1 pseudohypoaldosteronism

Autor: Nine V A M Knoers, Olivier Bonny, Leo A. H. Monnens, Bernard C. Rossier

Publikováno v: Pediatric Nephrology, 17, 10, pp. 804-8
Pediatric Nephrology, 17, 804-8

Item does not contain fulltext Type I pseudohypoaldosteronism (PHA-1) is a rare salt wasting syndrome occurring soon after birth, characterized by apathy and severe dehydration accompanied by hyponatremia, hyperkalemia, and metabolic acidosis despite

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b34b172449eeddda247ee1873f7db6
https://doi.org/10.1007/s00467-002-0945-8

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Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts

Autor: R. Gorlin, L.L. Barrow, Jeffrey C. Murray, S.E.C. van Beersum, Sandy Daack-Hirsch, J.H.L.M. van Bokhoven, T. Andersen

Publikováno v: Scopus-Elsevier
Journal of Medical Genetics, 39, 559-66
Journal of Medical Genetics, 39, 8, pp. 559-66

Item does not contain fulltext EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60c77e7193d26f086521d74f92f9c864
https://doi.org/10.1136/jmg.39.8.559

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Reevaluation of the criteria for the clinical diagnosis of Gitelman syndrome

Autor: Nine V A M Knoers, Man S. Oh, Troels Ring, Mitchell L. Halperin

Publikováno v: Pediatric Nephrology, 17, 8, pp. 612-6
Pediatric Nephrology, 17, 612-6

Item does not contain fulltext A 16-year-old female had mutations in both alleles of the gene encoding her sodium-chloride cotransporter; one of these mutations is newly described. Her clinical findings were not typical because of the absence of hypo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef3bb36367cd1a4f7ce80471d8a693fa
https://doi.org/10.1007/s00467-002-0898-y

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Mutant Luteinizing Hormone Receptors in a Compound Heterozygous Patient with Complete Leydig Cell Hypoplasia: Abnormal Processing Causes Signaling Deficiency

Autor: T.E. Romer, Miriam Verhoef-Post, Ch Sultan, Han G. Brunner, Annette Richter-Unruh, Axel P. N. Themmen, Maria Szarras-Czapnik, John W.M. Martens, Virginie Georget, Serge Lumbroso

Publikováno v: Journal of Clinical Endocrinology and Metabolism, 87, 2506-13
Journal of Clinical Endocrinology and Metabolism, 87, 6, pp. 2506-13

Item does not contain fulltext Over the past 5 yr several inactivating mutations in the LH receptor gene have been demonstrated to cause Leydig cell hypoplasia, a rare autosomal recessive form of male pseudohermaphroditism. Here, we report the identi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7ce6fafcc52ea72b9d750cdae6dd2a6
https://doi.org/10.1210/jcem.87.6.8523

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Autor: Bruce D. Gelb, Han G. Brunner, Andra Ion, Ineke van der Burgt, Dan L. Musat, Michael A. Patton, Steve Jeffery, Marco Tartaglia, Andrew H. Crosby, Kamini Kalidas, Débora Romeo Bertola, Adam Shaw, Xiaoling Song, Raju Kucherlapati

Publikováno v: American Journal of Human Genetics, 70, 6, pp. 1555-63
American Journal of Human Genetics, 70, 1555-63

Item does not contain fulltext Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the gene encoding the n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1af722ed15f126a7bce4d784e73e902a

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Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation

Autor: Gregory J. Moore, Ian B. Wilds, Thomas D. Bird, Donald Yool, John Kamholz, Michael W. Faulk, James Y. Garbern, Ian R. Griffiths, Matthias Klugmann, Marjo S. van der Knaap, K.-A. Nave, Michael E. Shy, Erik A. Sistermans

Publikováno v: Brain, 125, 551-61
Brain, 125(3), 551-561
Garbern, J Y, Yool, D A, Moore, G J, Wilds, I B, Faulk, M W, Klugmann, M, Nave, K A, Sistermans, E A, Van Der Knaap, M S, Bird, T D, Shy, M E, Kamholz, J A & Griffiths, I R 2002, ' Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation ', Brain, vol. 125, no. 3, pp. 551-561 . https://doi.org/10.1093/brain/awf043
Brain, 125, Pt 3, pp. 551-61

Item does not contain fulltext Axonal degeneration contributes to clinical disability in the acquired demyelinating disease multiple sclerosis. Axonal degeneration occurs during acute attacks, associated with inflammation, and during the chronic prog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::864a34ca36201a594c4e2571a604abae
https://doi.org/10.1093/brain/awf043

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Decision Analysis of Prophylactic Surgery or Screening for BRCA1 Mutation Carriers: A More Prominent Role For Oophorectomy

Autor: Willem A.J. van Daal, Nicoline Hoogerbrugge, Mariëlle S. van Roosmalen, Peep F. M. Stalmeier, Lia C.G. Verhoef

Publikováno v: Journal of Clinical Oncology, 20, 2092-100
Journal of Clinical Oncology, 20, 8, pp. 2092-100

PURPOSE: BRCA1 mutation carriers have a high risk of developing breast and ovarian cancer. Carriers may opt for prophylactic surgery and screening. Recent data suggesting that prophylactic oophorectomy reduces breast cancer risk have been incorporate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7d996c40133263db3cf56f6b7eb1b17
https://doi.org/10.1200/jco.2002.08.035

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Mutations in the p53 homolog p63: allele-specific developmental syndromes in humans

Autor: Frank McKeon, Hans van Bokhoven

Publikováno v: Trends in Molecular Medicine, 8, 3, pp. 133-9
Trends in Molecular Medicine, 8, 133-9

Item does not contain fulltext p63 is the most recently discovered but most ancient member of the p53 family. In marked contrast to p53, p63 is highly expressed in embryonic ectoderm and in the basal, regenerative layers of many epithelial tissues in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ee25e3d24de527b0424abb6438b7480
https://doi.org/10.1016/s1471-4914(01)02260-2

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Afweerstoornissen als onderdeel van een syndroom

Autor: N. G. Hartwig, C.M.R. Weemaes, C.J.A.M. van der Burgt

Publikováno v: Tijdschrift voor Kindergeneeskunde, 6, pp. 239-245
Tijdschrift voor Kindergeneeskunde, 6, 239-245

Bij een aantal immuundeficienties zijn niet alleen de fagocyten of lymfocyten aangedaan, maar is de afweerstoornis onderdeel van een syndroom. Op de voorgrond staan hierbij combinaties met groeistoornissen, neurologische stoornissen, huid- en haarpro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd601852c95cd84b81b95d9996992155
https://doi.org/10.1007/bf03061365

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