Search results for "Hox"
showing 10 items of 1357 documents
SHOX HAPLOINSUFFICIENCY INTRA FAMILIAL PHENOTIPIC VARIABILITY AND THE IMPACT ON FINAL HEIGHT: REPORT OF A PEDIGREE
2019
SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype. GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.
APLOINSUFFICIENZA DEL GENE SHOX E TRATTAMENTO CON RHGH IN ETÀ EVOLUTIVA: STUDIO MULTICENTRICO
2011
Do children and adolescents with idiopathic short stature show postural alterations? Possible influence of SHOX haploinsufficiency in a pilot study
2019
Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may affect posture. The aim of this study was to evaluate postural characteristics in patients with ISS.
CASO CLINICO: triplicazione del gene SHOX in un paziente con disgenesia gonadica mista e mosaicismo 46,X,i(Y)(p10)[94]/45,X[13]
2021
PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA Descriviamo il caso di un bambino di 2.5 anni con bassa statura, altezza 84cm (-2DS), SPAN 82.5cm, peso 10 kg (-2.5DS). Nato SGA (EG:40.5), con p.c.: 2480 g (-2.44DS), lunghezza: 47cm (-1.64DS), c.c.: 33 cm (-1.84DS).Stadio PH1G1, volume testicolare: 2 ml con genitali esterni normo-conformati. Era stato sottoposto ad amniocentesi, con diagnosi prenatale di disgenesia gonadica mista associata a cariotipo a mosaico 45,X[25]/46,X,i(Y)[18]. IPOTESI DIAGNOSTICHE • deficit accrescitivo in nato SGA • bassa statura da SHOX-D • ritardo della crescita costituzionale o secondario a malassorbimento INDAGINI DI I E II LIVELLO Per la ridotta velocit…
Die Hemmung der Riesenzellbildung durch das sogenannte Compound 48/80 nach der Infektion mit dem Herpesvirus hominis
1969
Es wurde uber die Wirkung des Histamin-Liberators Compound 48/80 auf die Phasen der Synthese des Herpesvirus hominis und auf normale Zellstoffwechselprozessein vitro berichtet.
Poly(ethylene glycol) diacrylate-based solid-phase extraction for determination of sulfonamides in meat samples
2020
Abstract In this work, a sorbent based on poly(ethylene glycol) diacrylate (PEGDA) polymer has been synthesized for solid-phase extraction (SPE) of sulfonamides (sulfaguanidine, sulfadiazine, sulfathiazole, sulfapyridine, sulfamethazine, sulfamonomethoxine, sulfamethoxazole, sulfisoxazole) from different meat matrices, which were subsequently determined by HPLC-DAD. Several extraction parameters such as loading and elution solvents as well as other variables (loading capacity, breakthrough volume and reusability) influencing on the analytical performance of the sorbent were optimized. Under the optimal conditions, the developed method was successfully applied to determine the eight sulfonam…
CCDC 1501943: Experimental Crystal Structure Determination
2016
Related Article: Elena A. Valishina, M. Fátima C. Guedes da Silva, Mikhail A. Kinzhalov, Svetlana A. Timofeeva, Tatyana M. Buslaeva, Matti Haukka, Armando J.L. Pombeiro , Vadim P. Boyarskiy, Vadim Yu. Kukushkin, Konstantin V. Luzyanin|2014|J.Mol.Catal.A:Chem.|395|162|doi:10.1016/j.molcata.2014.08.018
CCDC 689575: Experimental Crystal Structure Determination
2009
Related Article: J.L.G.Ruano, J.Aleman, S.Catalan, V.Marcos, S.Monteagudo, A.Parra, C.del Pozo, S.Fustero|2008|Angew.Chem.,Int.Ed.|47|7941|doi:10.1002/anie.200802885
CCDC 1052254: Experimental Crystal Structure Determination
2015
Related Article: E. Salojärvi, A. Peuronen, R. Sillanpää, P. Damlin, H. Kivelä, A. Lehtonen|2015|Dalton Trans.|44|9409|doi:10.1039/C5DT00995B
CCDC 1904437: Experimental Crystal Structure Determination
2019
Related Article: Marina V. Volostnykh, Sergey M. Borisov, Mikhail A. Konovalov, Anna A. Sinelshchikova, Yulia G. Gorbunova, Aslan Yu. Tsivadze, Michel Meyer, Christine Stern, Alla Bessmertnykh-Lemeune|2019|Dalton Trans.|48|8882|doi:10.1039/C9DT01577A