Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Charlotte Noakes"'
Autor:
Christiane Zweier, Valérie Benoit, Alejandro Leal, Marie-Cécile Nassogne, Lucy Raymond, Marie Deprez, Mateja Smogavec, Alison Cleall, Damien Lederer, Elizabeth E. Palmer, Jozef Gecz, Deborah J. Shears, Marie Shaw, Charlotte Noakes, Knut Brockmann, Isabelle Maystadt, Juliane Hoyer, André Reis
Publikováno v:
Journal of Medical Genetics. 53:820-827
Background Heterozygous copy number variants (CNVs) or sequence variants in the contactin-associated protein 2 gene CNTNAP2 have been discussed as risk factors for a wide spectrum of neurodevelopmental and neuropsychiatric disorders. Bi-allelic aberr
Autor:
Edward Blair, Smita Y. Patel, K Thomson, Jenny C. Taylor, John Taylor, Shelley Segal, Charlotte Noakes, Berne Ferry, Ross Sadler, Anne-Kathrin Kienzler, Richa U. Sharma, Helen Chapel, Pauline A. van Schouwenburg, Ishita Marwah
Publikováno v:
Clinical Immunology (Orlando, Fla.)
Loss-of-function mutations in DOCK8 are linked to hyper-IgE syndrome. Patients typically present with recurrent sinopulmonary infections, severe cutaneous viral infections, food allergies and elevated serum IgE. Although patients may present with a s
Publikováno v:
Pediatric radiology. 47(8)
Trichorhinophalangeal syndrome type II is a rare genetic disorder with the few published case reports mainly reporting the radiographic skeletal manifestations. There are no published imaging reports of long bone cysts involving multiple bones in thi
Autor:
Helen Lord, Efi Pandelia, Louise J. Williams, Catherine Sarri, Michael B. Petersen, Euterpe Bazopoulou-Kyrkanidou, Charlotte Noakes, Yolanda Gyftodimou, Amalia Stefanidou, Andrew O.M. Wilkie, Konstantinos Varvagiannis, Tracy Lester
Publikováno v:
Varvagiannis, K, Stefanidou, A, Gyftodimou, Y, Lord, H, Williams, L, Sarri, C, Pandelia, E, Bazopoulou-Kyrkanidou, E, Noakes, C, Lester, T, Wilkie, A O M & Petersen, M B 2013, ' Pure de novo partial trisomy 6p in a girl with craniosynostosis ', American Journal of Medical Genetics. Part A, vol. 161A, no. 2, pp. 343-351 . https://doi.org/10.1002/ajmg.a.35727
Duplications of chromosome 6p are rarely reported. We present the case of a girl with a de novo trisomy 6p12.3-p21.1 who showed clinical features characteristic of this syndrome, notably facial anomalies, psychomotor delay, and recurrent respiratory