Zobrazeno 1 - 10
of 187
pro vyhledávání: '"COBBEN, JM"'
Autor:
Hammond, P, Mckee, S, Suttie, M, Allanson, J, Cobben, Jm, Maas, Sm, Quarrell, O, Smith, Ac, Lewis, S, Tassabehji, M, Sisodiya, S, Mattina, Teresa, Hennekam, R.
Publikováno v:
Human Genetics
Human genetics, 133(9), 1117-1125. Springer Verlag
Human genetics, 133(9), 1117-1125. Springer Verlag
Sequencing technology is increasingly demonstrating the impact of genomic copy number variation (CNV) on phenotypes. Opposing variation in growth, head size, cognition and behaviour is known to result from deletions and reciprocal duplications of som
Publikováno v:
Genetic counseling, 13(1), 49-54
Fishing for a diagnosis; A family with primary infertility and two members with mental retardation and subtle facial dysmorphism is described. In the two retarded persons chromosomal rearrangements (partial monosomy of chromosome 5 and partial trisom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c4395592da856b9524a5e3a06727d35b
https://research.rug.nl/en/publications/62b23680-3b1f-441f-90f3-2830d6acf67e
https://research.rug.nl/en/publications/62b23680-3b1f-441f-90f3-2830d6acf67e
Autor:
Dreesen, JCFM, Bras, M, de Die-Smulders, C, Dumoulin, JCM, Cobben, JM, Evers, JLH, Smeets, HJM, Geraedts, JPM
Publikováno v:
Molecular human reproduction, 4(9), 881-885. Oxford University Press
After Duchenne muscular dystrophy, spinal muscular atrophy (SMA) is the most common severe neuromuscular disease in childhood. Since 1995, homozygous deletions in exon 7 of the survival motor neuron (SMN) gene have been described in >90-95% of SMA pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::8e3438721edeb28dad525701e264e527
https://research.rug.nl/en/publications/7e57f314-3562-42c9-b187-4fa5805dbd61
https://research.rug.nl/en/publications/7e57f314-3562-42c9-b187-4fa5805dbd61
Publikováno v:
American Journal of Medical Genetics, 75(2), 207-210. WILEY-LISS
We report on 2 sisters with Karsch-Neugebauer syndrome comprising split foot and split hand anomalies in association with congenital nystagmus. These sisters share a nearly identical phenotype with the 8 previously reported instances of this disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::7334f3433a9483a99c714d118f5ff472
https://research.rug.nl/en/publications/e8fa5cc9-ac02-4aa9-bb16-86fed63d8179
https://research.rug.nl/en/publications/e8fa5cc9-ac02-4aa9-bb16-86fed63d8179
Autor:
vanderSteege, G, Grootscholten, PM, Cobben, JM, Zappata, S, Scheffer, H, denDunnen, JT, vanOmmen, GJB, Brahe, C, Buys, CHCM
Publikováno v:
American Journal of Human Genetics, 59(4), 834-838. CELL PRESS
The survival motor neuron (SMN) gene has been described as a determining gene for spinal muscular atrophy (SMA). SMN has a closely flanking, nearly identical copy ((C)BCD541). Gene and copy gene can be discriminated by sequence differences in exons 7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::9edcf018bb29500fe42844890acb00a6
https://research.rug.nl/en/publications/3956c6b9-d03d-42fc-b33b-789238f6f7b9
https://research.rug.nl/en/publications/3956c6b9-d03d-42fc-b33b-789238f6f7b9
Autor:
Crackower, MA, Scherer, SW, Rommens, JM, Hui, CC, Poorkaj, P, Soder, S, Cobben, JM, Hudgins, L, Evans, JP, Tsui, LC
Publikováno v:
Human Molecular Genetics, 5(5), 571-579. Oxford University Press
Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form of this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::ac47b8f896f97decc161ead18b435b2d
https://research.rug.nl/en/publications/58d51ef3-85df-4d95-b00b-f6c4a7cd31ff
https://research.rug.nl/en/publications/58d51ef3-85df-4d95-b00b-f6c4a7cd31ff
Publikováno v:
American Journal of Human Genetics, 57(4), 805-808. CELL PRESS
DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of 103. Neuronal apoptosis inhibitory protein deletions were found in 38 (37%) of 103 and occu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::d2cd19474b898439d5a2800d44443e43
https://research.rug.nl/en/publications/1f19d694-af2c-47ff-8a5a-266adfc88500
https://research.rug.nl/en/publications/1f19d694-af2c-47ff-8a5a-266adfc88500
Publikováno v:
American Journal of Medical Genetics, 58(1), 83-86. WILEY-LISS
We report on a 22-year-old woman and her al-year-old brother with mild mental retardation, long face, prominent forehead, retrognathia, and (relative) macrocephaly. At birth they were small for date, their length is now below the 10th centile. Chromo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::993fbde6554e83c9e20626f7a0dfed00
https://research.rug.nl/en/publications/03eb4dda-a2e7-4b1e-a18d-02ff92721ae7
https://research.rug.nl/en/publications/03eb4dda-a2e7-4b1e-a18d-02ff92721ae7
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 32(5), 375-378. BMJ PUBLISHING GROUP
A boy with typical tetramelic split hands and feet is described. In addition, there was a large arteriovenous malformation of the right arm. Chromosome studies showed a pericentric inversion of chromosome 7: 46,XY,inv(7) (p22q21.3). Inspection of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::b73b4fc4ebd3eebd167ba084cbd428be
https://research.rug.nl/en/publications/ece6db83-f0a4-4514-8cf3-e74806aaba5d
https://research.rug.nl/en/publications/ece6db83-f0a4-4514-8cf3-e74806aaba5d
Autor:
VANDERSTEEGE, G, GROOTSCHOLTEN, PM, VANDERVLIES, P, DRAAIJERS, TG, OSINGA, J, COBBEN, JM, SCHEFFER, H, BUYS, CHCM
Publikováno v:
LANCET, 345(8955), 985-986. ELSEVIER SCIENCE INC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::f381f55d7edfc5f4e4ae1d754fd23c20
https://research.rug.nl/en/publications/aee01fd1-dab8-4961-8a3c-6aa4a7439995
https://research.rug.nl/en/publications/aee01fd1-dab8-4961-8a3c-6aa4a7439995