No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation

Autor: D, Kotzot, I W, Lurie, K, Méhes, E, Werder, A, Schinzel

Publikováno v: Clinical genetics. 58(3)

Intrauterine growth retardation (IUGR) is defined as length and/or weight below the 10th percentile. Etiology and, consequently, long-term outcome are extremely heterogeneous with chromosomal abnormalities found in up to 7%. Recently, uniparental dis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::83085744420c022e2176b8bf972cdaee
https://pubmed.ncbi.nlm.nih.gov/11076039

An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism

Autor: J A, Fischer, F, Egert, E, Werder, W, Born

Publikováno v: The Journal of clinical endocrinology and metabolism. 83(3)

Pseudohypoparathyroidism type Ia (PSP) is a disorder characterized by Albright's osteodystrophy, secondary hyperparathyroidism, lowered Gs activity, and resistance of the urinary cAMP excretion to exogenous PTH. The patients had raised basal serum le

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5728415a6a626affed6c588a0a288403
https://pubmed.ncbi.nlm.nih.gov/9506752

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

Autor: J H Wales, P J Milla, M Ginalska-Malinowska, Miroslav Dumić, D B Grant, N D Barnes, R J Rowlatt, E Werder, R Steendijk, W von Petrykowski

Publikováno v: Archives of disease in childhood. 68(6)

Review of 20 patients with glucocorticoid deficiency (three cases also with salt loss) associated with absent tear secretion (19 cases) and achalasia of the cardia (15 cases) revealed neurological abnormalities in 17 including hyper-reflexia, muscle

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14cf211ad7ec374a8b5d09f29764efdb
https://pubmed.ncbi.nlm.nih.gov/8333772

Selected Abstracts from the 2024 International Neuroethics Society Annual Meeting.

Autor: Bassil, Katherine, Jongsma, Karin, Bissette, Hunter, Cecchini, Dario, Sterner, Ryan, Eskander, Elizabeth, Dubljević, Veljko, McCall, Iris Coates, Magel, Brooke, Bosma, Rachael L., Lo, Chris, Sukhera, Javeed, Chandler, Jennifer A., Burke, Emeralda, Patmore, Dwayne, Davis, Karen D., Buchman, Daniel Z., Cunningham, Joshua E., Bluhm, Robyn, Achtyes, Eric D.

Publikováno v: AJOB Neuroscience; Oct-Dec2024, Vol. 15 Issue 4, pW1-W14, 14p

Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.

Autor: Pérez-Luz, Sara¹ (AUTHOR) sara.perez@isciii.es, Lalchandani, Jaanam¹ (AUTHOR) j.lalchandani@isciii.es, Matamala, Nerea¹ (AUTHOR) nmatamala@isciii.es, Barrero, Maria Jose² (AUTHOR) mj.barrero@isciii.es, Gil-Martín, Sara^1,3 (AUTHOR) sara.gil@externos.isciiii.es, Saz, Sheila Ramos-Del¹ (AUTHOR) sheila.ramos@isciii.es, Varona, Sarai⁴ (AUTHOR) s.varona@isciii.es, Monzón, Sara⁴ (AUTHOR) smonzon@isciii.es, Cuesta, Isabel⁴ (AUTHOR) isabel.cuesta@isciii.es, Justo, Iago⁵ (AUTHOR) iagojusto@hotmail.com, Marcacuzco, Alberto⁵ (AUTHOR) alejandro_mar@icloud.com, Hierro, Loreto⁶ (AUTHOR) marial.hierro@salud.madrid.org, Garfia, Cristina⁷ (AUTHOR) cgarfia@hotmail.com, Gomez-Mariano, Gema¹ (AUTHOR) ggomezm@isciii.es, Janciauskiene, Sabina⁸ (AUTHOR) janciauskiene.sabina@mh-hannover.de, Martínez-Delgado, Beatriz^1,3 (AUTHOR) bmartinezd@isciii.es

Publikováno v: International Journal of Molecular Sciences. Aug2023, Vol. 24 Issue 15, p12472. 17p.