[PDF] Top 20 Modelo de gestión de talento humano en la empresa Floricola Decoflor de la provincia de Cotopaxi
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A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
... this family did not display all traditionally key features of OFDS, thus confirming once again the variable phenotypic spectrum of ...this family neither of the patients have digital ab- normalities ... See full document
148
A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature
... Stickler syndrome exhibit varying signs and symptoms, which often may result in a delayed or missed diagnosis ...Stickler syndrome is the basis for about 20–50% of infants with Pierre Robin sequence [20, ... See full document
11
A Novel Site Mutation in A Wiskott-Aldrich Syndrome Boy: A Case Report
... missense mutation that results in insufficient or incomplete expression WASP [9-11]; XLN is caused by constitutive activation of WASP protein expression due to functional acquired mutations ...Chinese case ... See full document
35
Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI
... Joubert Syndrome (JS) is a rare midbrain-hindbrain mal- formation with an estimated prevalence between 1:80 000 and 1:100 000 live births ...JBTS10/ OFD1, JBTS12/KIF7, JBTS13/TCTN1 and the ... See full document
71
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
... any type of Diabetes are more severe in the presence of chronic hypomagnesaemia of any cause ...monogenic type of Diabetes, is not reported to be associated with GS in ...the case of Diabetes also, ... See full document
8
A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum
... ‘senile’ facial appearance, loose skin, downslanting palpebral fissures, frontal bossing, downturned corners of the mouth, and skeletal abnormalities including big ears, micrognathia, ara- chnodactyly, a pectus ... See full document
22
Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report
... we report the characterization of a novel PAH variation in an Iranian patient with mod- erate ...The novel missense variation is cha- racterized by a G>T transition leading to the substitution of ... See full document
25
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature
... An 8-month-old white boy of Turkish origin initially presented to the Department of Pedodontics, at Charité – Universitätsmedizin Berlin Hospital, due to an unex- plained early loss of his primary lower central incisors. ... See full document
25
A novel <em>BCR-ABL1</em> mutation in a patient with Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia
... this mutation typically do not respond to this TKI or other first-line TKIs, but are more sensitive to bosutinib that can bind to the active conformation of the ... See full document
17
Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
... Knudson’s two-hit model for tumorigenesis [10] addresses that the first hit can take place either in germ- line or in somatic tissue and compromise a small num- ber of bases. The mutations are distributed across the MEN1 ... See full document
159
Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia
... SPAST gene within a family may vary from asymptomatic patients, mildly affected individuals to severely affected patients ...affected family mem- bers varied from absence of clinical symptoms and ... See full document
7
Marfan syndrome with acute abdomen: a case report
... Invasive arterial monitoring was conducted preopera- tively from the radial artery in case prophylaxis to prevent endocarditis and aspiration pneumonia was applied. Due to the risks presented by the skeleton and ... See full document
6
A case of possibly pathogenic<em> PSEN2</em> R62C mutation in a patient with probable early-onset Alzheimer’s dementia supported by structure prediction
... At the same locus of PSEN2 R62, another mutation to histidine (His, H) was previously reported with a frequency of 0.009897 (0.001–0.01) in ExAC database. PSEN2 R62H appeared as both homozygous and heterozygous ... See full document
29
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report
... MRI Brain findings of hypomyelination, hypointensi- ties in the posterior limb of internal capsule (PLIC), ventrolateral thalamus and dentate nucleus on T2 weighted images have been reported. Myelination of the pyramidal ... See full document
28
The antiphospholipid antibody syndrome: a case report
... antiphospholipid antibodies. Management of the present patient involved nutrition (given his remarkable weight loss), the prevention of hepatic encephalopathy through management of chronic liver disease, and the ... See full document
5
A large and aggressive fibromatosis in the axilla: a rare case report and review of the literature
... Abstract: Aggressive fibromatosis (AF) is a rare benign tumor, which occurs in the deep part of bone and muscle fibrous tissue. Clinical and pathological features can be challenging for definitive diagnosis. Here, we ... See full document
15
A novel nonsense mutation of the <em>KAL1</em> gene (p.Trp204*) in Kallmann syndrome
... their family members, for a total of 16 ...parameters: 1) pattern of family inheritance; 2) stage of sexual maturation; 3) anthropometric data; 4) hormone lev- els (follicle-stimulating hormone ... See full document
50
<p>A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis</p>
... The patient was lost on follow-up and apparently replaced allopathic treatment for dyslipidemia ( fi brate plus high- potency statin) with homeopathic medications. After three years, she complained again of abdominal ... See full document
9
Identification of a novel CACNA1A mutation in a Chinese family with autosomal recessive progressive myoclonic epilepsy
... A homozygous CACNA1A c.6975_6976insCAG in the exon 47 identified in the proband was further confirmed by direct Sanger sequencing. The same homozygous variant was found in the affected sibling (II:1 and II:3; ... See full document
9
Novel <em>ATP7A </em>gene mutation in a patient with Menkes disease
... The phenotype in that case included cerebellar ataxia, pili torti, and vascular tortuosity. On follow-up, the patient had a predominant motor delay with extreme dysarthria requiring a communication board until age ... See full document
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