𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinical and molecular correlations in the sickle/β+-thalassemia syndrome

✍ Scribed by George F. Atweh; Dr. Bernard G. Forget

Publisher
John Wiley and Sons
Year
1987
Tongue
English
Weight
404 KB
Volume
24
Category
Article
ISSN
0361-8609

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular pathogenesis and clinical vari
Molecular pathogenesis and clinical variability of β-thalassemia syndromes among Indians
✍ Anita Nadkarni; A.C. Gorakshakar; C.Y. Lu; R. Krishnamoorthy; K. Ghosh; Roshan C 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 44 KB

## Abstract Sixty‐four homozygous β‐thalassemia patients comprising 40 patients with β‐thalassemia major and 24 patients with β‐thalassemia intermedia were investigated for the nature of their β‐thalassemia mutations, associated α‐thalassemia, and __Xmn__I polymorphism in the gamma gene which are k

Clinical, hematologic and biosynthetic s
Clinical, hematologic and biosynthetic studies in sickle cell-β°-thalassemia: A comparison with sickle cell anemia
✍ Martin H. Steinberg; Bernard J. Dreiling 📂 Article 📅 1976 🏛 John Wiley and Sons 🌐 English ⚖ 470 KB 👁 1 views

## Abstract The diseases commonly confused with sickle cell anemia include sickle cellβ‐thalassemia in which synthesis of β^A^‐chains are completely suppressed (HbS‐β^O^‐thalassemia). We obtained hematologic measurements and studied globin biosynthesis in five patients with this disorder and compar

Electrophysiological and clinical correl
Electrophysiological and clinical correlations in the Lambert-Eaton myasthenic syndrome
✍ Shin J. Oh; Doo E. Kim; Reha Kuruoglu; Jordan Brooks; Gwendolyn Claussen 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB 👁 1 views

has not been any report which studied systematically the relationship between the repetitive nerve stimulation (RNS) test and severity of Lambert-Eaton myasthenic syndrome (LEMS) . We report such a study here. ## Methods This study was based on 57 RNS tests on the abductor digiti quinti (ADO musc

Effect of α-thalassemia and β-globin gen
Effect of α-thalassemia and β-globin gene cluster haplotypes on the hematological and clinical features of sickle-cell anemia in Brazil
✍ Figueiredo, M.S.; Kerbauy, J.; Gonçalves, M.S.; Arruda, V.R.; Saad, S.T.O.; Sona 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 447 KB 👁 1 views

To compare the features of sickle-cell anemia in Brazil with those in other locales, we studied the effects of the p-globin-like gene cluster haplotype and a-thalassemia upon the clinical and hematological features in 85 patients. The distribution of haplotypes differed from that in the United State

Molecular and clinical correlation study
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
✍ Wang, Michael S.; Schinzel, Albert; Kotzot, Dieter; Balmer, Damina; Casey, Robin 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 2 views

## Williams -Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and parental origin of deletion have been investiga