Results 121 to 130 of about 282,756 (243)

Gonadal and gonadosomatic mosaicism in NF1: report of two families

JDDG: Journal der Deutschen Dermatologischen Gesellschaft
sponsorship: We wish to thank the Austrian lay association NF Kinder () for their continuous support of patients and their families with neurofibromatosis and of our work. (Austrian lay association NF Kinder)
Seidl-Philipp, Magdalena, Veyt, Nathalie, Schnaiter, Simon, Krogsdam, Anne, Schwendinger, Simon, Maertens, Ophelia, Fauth, Christine, Schmuth, Matthias, Legius, Eric, Wimmer, Katharina, Brems, Hilde   +10 more
openaire   +3 more sources

Case report: A novel de novo germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Bacillus Calmette–Guerin osteomyelitis

Frontiers in Immunology
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state.
Qin Ying Lim, Qin Ying Lim, Daniel Leung, Crystal K. Lam, Xingtian Yang, Kai N. Cheong, Kai N. Cheong, Andrew K. H. Yik, Jing Yang, Koon-Wing Chan, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Pamela P. W. Lee, Miyuki Tsumura, Elaine Y. L. Au, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Jaime S. Rosa Duque, Satoshi Okada, Yu Lung Lau, Yu Lung Lau, Yu Lung Lau   +22 more
doaj   +1 more source

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study [PDF]

, 2017
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal α-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA ...
Auer-Grumbach, Michaela, Baets, Jonathan, De Jonghe, Peter, De Vriendt, Els, Deconinck, Tine, Dierick, Ines, Fischer, Dirk, Helderman-van den Enden, A. T. J. M., Irobi, Joy, Jacobs, An, Jordanova, Albena, Kochanski, Andrzej, Mazanec, Radim, Merlini, Luciano, Mitrovic, Zoran, Morales, Raul Juntas, Nelis, Eva, Rasic, Vedrana Milic, Robberecht, Wim, Seeman, Pavel, Timmerman, Vincent, Van den Bergh, Peter, Wokke, John H. J.   +22 more
core  

Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report

São Paulo Medical Journal
CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y ...
Henrique Soares, Ana Maia, Miguel Campos, Sofia Dória, José Manuel Lopes, Manuel Fontoura   +5 more
doaj   +1 more source

Karyotypes and Case Studies of Ten Individuals With Suspected Sex Chromosome Anomalies [PDF]

, 1974
40 leaves, Advisor: Michael E. MyszewskiThe problem. This study will involve making a karyotype analysis and a case study of the residents of Woodward State Hospital and School who had been previously reported as having an abnormal X-chromatin ...
Dawson, Duane
core   +1 more source

Isolation and radioimmunoassay of thyroxine-binding globulin (TGB) [PDF]

, 1974
Erhardt, F., Horn, K., Livesey, P. G., Scriba, Peter Christian   +3 more
core   +1 more source

ACTH bioassay with isolated rat adrenal cells: ACTH activity of the porcins lipotropic peptide B [PDF]

, 1974
Baur, X., Marschner, I., Müller, O. A., Schwandt, P., Scriba, Peter Christian, Weisweiler, P.   +5 more
core   +1 more source

Automated competitive protein binding analysis and radioimmunoassay of serum cortisol without prior organic solvent extraction [PDF]

, 1974
Braun, J., Müller, O. A., Scriba, Peter Christian   +2 more
core   +1 more source

Ultrasound of unambiguous genitalia: Challenges and Pitfalls [PDF]

An ultrasound scan is an essential imaging tool in the initial assessment of an infant or child presenting with ambiguous genitalia (Ahmed et al, 2016).
Harris, A., Watson, T., Watts, S.
core  

Hereditary angioedema in 2 sisters due to paternal gonadal mosaicism.

Journal of Allergy and Clinical Immunology: In Practice, 2018
D. Ebo, A. V. Van Gasse, V. Sabato, E. Bartholomeus, E. Reyniers, J. Vanbellinghen, H. Poirel, G. Mortier   +7 more
semanticscholar   +1 more source