Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Michal, Ajzensztejn"'
Autor:
David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-9 (2021)
Abstract Background Transcriptional regulation of the SHOX gene is highly complex. Much of our understanding has come from the study of copy number changes of conserved non-coding sequences both upstream and downstream of the gene. Downstream deletio
Externí odkaz:
https://doaj.org/article/3e92f1e1c41c4fc8bfbb3cd6724d9103
Publikováno v:
Endocrine Abstracts.
Autor:
Nicholas Thomas, Tim Hampton, Tony Hulse, Istvan Bodi, Charles Buchanan, Ved Bhushan Arya, Ritika R Kapoor, Michal Ajzensztejn, Simon Aylwin, Jennifer Kalitsi, Nicolas Kalogirou
Publikováno v:
Clinical Endocrinology. 94:413-423
To report the clinical presentation, management and outcomes of young patients with prolactinomas (20 years) and conduct a systematic review and meta-analysis.Clinical, biochemical and radiological data (1996-2018) were collected from our centre. A s
Autor:
Detlef Bockenhauer, John C. Achermann, Michal Ajzensztejn, Norman F. Taylor, Charu Deshpande, Senthil Senniappan, Henry Morgan, Gill Rumsby, Dinesh Giri
Publikováno v:
Hormone Research in Paediatrics. 93:137-142
Introduction: We present a patient with co-existence of 3β-hydroxysteroid dehydrogenase type 2 (HSD3B2) deficiency and Bartter syndrome, a unique dual combination of opposing pathologies that has not been reported previously in the literature. Case:
Autor:
Caroline Ponmani, Sherin Koshy, Shankar Kanumakala, Yvette Redpath, Sophia Sakka, Tony Hulse, Michal Ajzensztejn, Chandu Wickramarachchi
Publikováno v:
Abstracts.
Autor:
Anu Paul, Pankaj Mishra, Bartlomiej Olczak, Tony Hulse, Brianna Cloke, Caroline Pardy, Michal Ajzensztejn
Publikováno v:
Journal of Pediatric Endoscopic Surgery. 1:181-183
We share our approach to management of a complex pelvic cyst. Antenatal diagnosis of absent right kidney and pelvic cyst, thought to be ovarian in nature. Postnatal imaging (US, MRU) suggestive of right-left crossed fused renal ectopia, normal ovarie
Autor:
Ved Bhushan Arya, Ekaterini Vamvakiti, Tony Hulse, Michal Ajzensztejn, Nadia Muhi-Iddin, Aparna K.R. Nambisan, Garima Chawla, Ritika R. Kapoor, Charles R. Buchanan, Clare Ferreira Pinto, Susan Bint, Nayana Lahiri
Publikováno v:
Hormone Research in Paediatrics. 92:382-389
Background: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients wit
Publikováno v:
Endocrine Abstracts.
Autor:
Tim Hampton, Charles R. Buchanan, Ritika R. Kapoor, Istvan Bodi, Ved Bhushan Arya, Nicholas Thomas, Nicolas Kalogirou, Simon Aylwin, Michal Ajzensztejn, Tony Hulse, Jennifer Kalitsi
Publikováno v:
Endocrine Abstracts.
Autor:
Sonia Gomes, Michal Ajzensztejn
Publikováno v:
Endocrine Abstracts.