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[Approved therapies and their effects on the main symptoms of urticaria : When symptom control of itchy wheals is not adequate-does updosing help?].
Wieczorek D, Wedi B. Wieczorek D, et al. Dermatologie (Heidelb). 2024 Apr;75(4):281-288. doi: 10.1007/s00105-024-05315-w. Epub 2024 Mar 1. Dermatologie (Heidelb). 2024. PMID: 38427051 Review. German.
However, it can be concluded that the use of modern second-generation antihistamines is both effective and safe based on the available data and our own long-term experiences in the specialized outpatient clinic of a university dermatology department, even though increased …
However, it can be concluded that the use of modern second-generation antihistamines is both effective and safe based on the available data …
Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.
Höppner J, Lais S, Roll C, Wegener-Panzer A, Wieczorek D, Högler W, Grasemann C. Höppner J, et al. Among authors: wieczorek d. Front Endocrinol (Lausanne). 2021 Oct 1;12:700612. doi: 10.3389/fendo.2021.700612. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34659108 Free PMC article.
The older brother was born preterm at 25 weeks gestation with hypercalcemia and hyperparathyroidism. The younger brother, born full-term, had severe hyperparathyroidism, muscular hypotonia, thrombocytopenia, failure to thrive and multiple metaphyseal fractures. ...
The older brother was born preterm at 25 weeks gestation with hypercalcemia and hyperparathyroidism. The younger brother, born full-term …
The effect of ocean warming on black sea bass (Centropristis striata) aerobic scope and hypoxia tolerance.
Slesinger E, Andres A, Young R, Seibel B, Saba V, Phelan B, Rosendale J, Wieczorek D, Saba G. Slesinger E, et al. Among authors: wieczorek d. PLoS One. 2019 Jun 13;14(6):e0218390. doi: 10.1371/journal.pone.0218390. eCollection 2019. PLoS One. 2019. PMID: 31194841 Free PMC article.
The 30chronicC group exhibited a significantly lower maximum metabolic rate and absolute aerobic scope in relation to the short-term acclimated group, but standard metabolic rate or Scrit were not affected. ...
The 30chronicC group exhibited a significantly lower maximum metabolic rate and absolute aerobic scope in relation to the short-term …
Hematopoietic Stem Cell Transplantation in an Infant with Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome.
Gössling KL, Schipp C, Fischer U, Babor F, Koch G, Schuster FR, Dietzel-Dahmen J, Wieczorek D, Borkhardt A, Meisel R, Kuhlen M. Gössling KL, et al. Among authors: wieczorek d. Front Immunol. 2017 Jun 30;8:773. doi: 10.3389/fimmu.2017.00773. eCollection 2017. Front Immunol. 2017. PMID: 28713390 Free PMC article.
Centromeric instability and facial anomaly remain unaffected. Although the long-term patient outcome and the neurological development remain to be seen, this curative therapy for immunodeficiency improves life expectancy and quality of life. ...
Centromeric instability and facial anomaly remain unaffected. Although the long-term patient outcome and the neurological development …
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, Warris A, van der Flier M, Bamforth JS, Doonanco K, Adès L, Ma A, Field M, Johnson D, Shackley F, Firth H, Woods CG, Nürnberg P, Gatti RA, Hurles M, Bober MB, Wollnik B, Jackson AP. Murray JE, et al. Among authors: wieczorek d. Hum Mutat. 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8. Hum Mutat. 2014. PMID: 24123394 Free PMC article.
Such growth failure is therefore sufficient to consider a diagnosis of LIG4 deficiency and early recognition of such cases is important as bone marrow failure, immunodeficiency, and sometimes malignancy are long term sequelae of this disorder....
Such growth failure is therefore sufficient to consider a diagnosis of LIG4 deficiency and early recognition of such cases is important as b …
Mutations in NSUN2 cause autosomal-recessive intellectual disability.
Abbasi-Moheb L, Mertel S, Gonsior M, Nouri-Vahid L, Kahrizi K, Cirak S, Wieczorek D, Motazacker MM, Esmaeeli-Nieh S, Cremer K, Weißmann R, Tzschach A, Garshasbi M, Abedini SS, Najmabadi H, Ropers HH, Sigrist SJ, Kuss AW. Abbasi-Moheb L, et al. Among authors: wieczorek d. Am J Hum Genet. 2012 May 4;90(5):847-55. doi: 10.1016/j.ajhg.2012.03.021. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541559 Free PMC article.
When the Drosophila melanogaster NSUN2 ortholog was deleted, severe short-term-memory (STM) deficits were observed; STM could be rescued by re-expression of the wild-type protein in the nervous system. ...
When the Drosophila melanogaster NSUN2 ortholog was deleted, severe short-term-memory (STM) deficits were observed; STM could be resc …
Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein.
Gaffin RD, Peña JR, Alves MS, Dias FA, Chowdhury SA, Heinrich LS, Goldspink PH, Kranias EG, Wieczorek DF, Wolska BM. Gaffin RD, et al. Among authors: wieczorek df. J Mol Cell Cardiol. 2011 Nov;51(5):812-20. doi: 10.1016/j.yjmcc.2011.07.026. Epub 2011 Aug 5. J Mol Cell Cardiol. 2011. PMID: 21840315 Free PMC article.
In this study, we sought to permanently alter calcium fluxes via phospholamban (PLN) gene deletion in Tm180 mice in order to sustain long-term improvements in cardiac function and adverse cardiac remodeling/hypertrophy. ...
In this study, we sought to permanently alter calcium fluxes via phospholamban (PLN) gene deletion in Tm180 mice in order to sustain long- …
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Wieczorek D, Pawlik B, Li Y, Akarsu NA, Caliebe A, May KJ, Schweiger B, Vargas FR, Balci S, Gillessen-Kaesbach G, Wollnik B. Wieczorek D, et al. Hum Mutat. 2010 Jan;31(1):81-9. doi: 10.1002/humu.21142. Hum Mutat. 2010. PMID: 19847792
In contrast, we show that complete duplications of the ZRS region lead to type Haas polysyndactyly or triphalangeal thumb-polysyndactyly syndrome, but do not affect lower limb development. We suggest the term "ZRS-associated syndromes" and a clinical subclassification for …
In contrast, we show that complete duplications of the ZRS region lead to type Haas polysyndactyly or triphalangeal thumb-polysyndactyly syn …
A family with autosomal dominant oculo-auriculo-vertebral spectrum.
Tasse C, Majewski F, Böhringer S, Fischer S, Lüdecke HJ, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: wieczorek d. Clin Dysmorphol. 2007 Jan;16(1):1-7. doi: 10.1097/MCD.0b013e328010d313. Clin Dysmorphol. 2007. PMID: 17159507 Review.
Oculo-auriculo-vertebral spectrum (MIM 164210) is a term suggested by Gorlin to summarize the different phenotypic expressions of a continuum that has been known as hemifacial microsomia, Goldenhar syndrome, or first and second branchial arch anomalies. ...
Oculo-auriculo-vertebral spectrum (MIM 164210) is a term suggested by Gorlin to summarize the different phenotypic expressions of a c …
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