[PDF] Top 20 Novel mutation of the PRNPgene of a clinical CJD case
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Novel mutation of the PRNPgene of a clinical CJD case
... Case presentation Patient The patient was a 70 year old woman, with a history of diabetes mellitus, who was admitted to the hospital with confusion and inability to walk. Six months prior to admission, her ... See full document
5
Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases
... E200G case and three well-characterized cases of NPDPSC E200K-129V(M) (Table 3) are initial gait difficulty followed by memory decline, striatal involvement on brain MRI, slowing on EEG, elevated CSF tau level, ... See full document
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Familial Prion Disease Cases Without Mutation in PRNPGene
... familial CJD by neurologists at Hazrat Rasool Hospital were referred to us for genetic analysis ...of clinical examinations, electroencephalographic (EEG) data, brain MRI, biochemistry, and disease ... See full document
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A case of Aromatase deficiency due to a novel CYP19A1 mutation
... a novel 27 base duplication in exon 8 of CYP19A1 , likely to result in a complete loss of function of the aromatase enzyme, the key enzyme regulating the oestradiol:testos- terone ratios in ...the clinical ... See full document
7
Novel RAG1 Mutation in a Case of Severe Combined Immunodeficiency
... segments, which form the variable portions of im- munoglobulin and TCR proteins. 2–5 Initially, muta- tions in either the RAG1 or RAG2 genes were iden- tified to cause SCID, with markedly reduced numbers of T and B ... See full document
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Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation
... CASR mutation does not induce a premature truncation or a structural conform- ation change of the ...our case, although in ab- sence of a specific functional proof, but taking into account of the positive ... See full document
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A Case of Reed Syndrome with a Novel Mutation in the Fumarate Hydratase Gene
... raising clinical suspicion for Reed syndrome. She was found to have a novel heterozygote mutation in her fumarate hydratase gene, supporting the ...This case demonstrates the importance of ... See full document
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The clinical significance of aldosterone synthase deficiency: report of a novel mutation in the CYP11B2 gene
... Our case illustrates the clinical significance to recognize this condition as it has a good long-term prognosis when adequate fludrocorti- sone replacement is ... See full document
5
Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene
... the clinical protocols currently used for dementias and were diagnosed according to the WHO 1998 criteria or the updated criteria by Zerr et ...for CJD. The clinical pictures of the 4 cases were also ... See full document
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Case Report A novel OCRL1 mutation in a Chinese child with Lowe syndrome
... Because Lowe syndrome is an X-linked reces- sive genetic disease, probands are males and they have typical manifestations of this dis- ease. In this study, the patient presented with congenital cataracts, hypotonia, ... See full document
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Case Report Novel mutation of RUNX2 gene in a patient with cleidocranial dysplasia
... the clinical diagnosis of cleidocranial ...a novel heterozygous mutation in exon 3 ...dysplasia. Clinical relevance: We identified a case of cleidocra- nial dysplasia due to a ... See full document
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A Novel Site Mutation in A Wiskott-Aldrich Syndrome Boy: A Case Report
... the mutation detection was performed at the first ...the clinical symptoms improved to some extent, but there still existed thrombocytopenia and a high CRP level (Table ... See full document
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Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report
... Case presentation: The clinical presentation was characterized by a severe early-onset of hypertension refractory to multiple therapy. To investigate this atypical hypertension, a renal Doppler ... See full document
5
Novel mutation in YMDD motif and direct neighbourhood in a child with chronic HBV infection and clinical lamivudine and adefovir resistance a scholarly case
... the case is scholarly for a couple of aspects: On the one hand it shows that there is a definite need for HBV-therapy also in paediatric ...and clinical studies are rare or completely miss- ... See full document
6
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia
... a case of neonatal FHH secondary to a heterozygous inactivating missense mutation within the CaSR gene that presented with se- vere hyperparathyroidism, overt neonatal skeletal demineralization and ... See full document
7
ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters
... Subsequently, two cerebral lacunar lesions were identified following a brain stroke. Clinical features improved on anti-tumour necrosis factor therapy. The first patient ’ s sister demonstrated early-onset, long- ... See full document
5
Identification of a novel COL2A1 mutation (c 1744G>A) in a Japanese family: a case report
... collagen forms a complex with proteoglycan. A decrease in this type II proteoglycan complex results in a de- crease in cartilaginous elasticity. When there is disease progression without symptoms, cartilaginous abrasion ... See full document
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Synchronous bilateral pheochromocytomas and paraganglioma with novel germline mutation in MAX: a case report
... Masahiro Shibata 1 , Takahiro Inaishi 1 , Noriyuki Miyajima 1 , Yayoi Adachi 1 , Yuko Takano 1 , Kenichi Nakanishi 1 , Dai Takeuchi 1 , Sumiyo Noda 1 , Yuichi Aita 2 , Kazuhiro Takekoshi 2 , Yasuhiro Kodera 3 and Toyone ... See full document
5
Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report
... In the study, two of six patients had deletions that encom- passed COL9A3 and one had seizure disorder, but they lacked in clinical features reminiscent of MED. The asso- ciation between seizure and COL9A3 is not ... See full document
6
Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report
... respiratory problems, due to chest deformities and lung hypoplasia, are the direct cause of death. HPP affects all races around the world, with a highly variable preva- lence. The prevalence of severe form is ... See full document
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