[PDF] Top 20 Clinical and molecular phenotype of Aicardi-Goutières syndrome
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Clinical and molecular phenotype of Aicardi-Goutières syndrome
... Department of Molecular and Human Genetics, Baylor College of Medicine, Houston ...Department of Paediatrics, Chil- dren’s Hospital, Sheffield, United Kingdom ...Developmental ... See full document
13
SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations
... subjects of this cohort were of European ancestry, with the majority being ...by clinical geneticists experienced with NS and clinically related disorders ...F.S. and O.G.). ... See full document
13
Clinical and molecular characterization of portuguese patients with a clinical diagnosis of MODY
... 50% of HNF1B mutation carriers, diabetes results from a combination of β-cell dysfunction and insulin ...dysplasia and exocrine dysfunction are ...absence of sulphonylurea sensitivity, ... See full document
58
Late onset Lennox Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
... The clinical symptoms associated with chromosome 15q dupli- cation syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language ... See full document
4
Clinical and Genetic Study of Rett Syndrome in Portugal
... by clinical geneticists, pediatricians or pediatric neurologists to be tested for MECP2 gene ...for clinical, molecular and familial information was filled in by the clinicians requesting the ... See full document
285
Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome
... Lahiri and Nurnberger (1991), with ...forward and two reverse primers in two combinations, one pair of primers flanking the trinucleotide repeat region am- plifies a fragment containing the variable ... See full document
4
Irisin and the Metabolic Phenotype of Adults with Prader-Willi Syndrome.
... years, and mean body mass index (BMI) ...by molecular genetic studies of chro- mosome 15 including microdeletion in 11 (7M/4F) and uniparental disomy (UPD) in 11 (5M/ ...combinations of ... See full document
13
CLINICAL AND MOLECULAR ANALYSIS OF SPINAL MUSCULAR ATROPHY IN BRAZILIAN PATIENTS
... analysis of the SMN gene in affected fami- lies is undoubtedly extremely important for clinical diag- nosis and prevention of new cases in “at-risk” families through prenatal ...lack of ... See full document
6
Critérios citológicos associados ao fenótipo luminal do carcinoma de mama
... (ER) and progesterone receptor (PR), HER2, Ki-67, CK5/6 and E-cadherin using the streptavidin-biotin-peroxidase technique (NCH-38, dilution 1: 100, pH 7; Dako, ...dilutions, and suppliers are listed ... See full document
60
Genotype-phenotype correlation in Brazillian Rett syndrome patients
... Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 ...gene and to establish a correlation between the main point mutations found and the ... See full document
8
Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch Syndrome.
... creation of clinical criteria has been important for the standardization of the LS diagnosis, the sensitivity and specificity of the clinical criteria for detecting LS patients ... See full document
17
Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome
... child of a non-con- sanguineous and healthy ...old, and the mother 28, at the time of ...cm, and Apgar scores 3 and ...days of age, atrial and ventricular septal ... See full document
5
ALPORT SYNDROME: Clinical and molecular study of Portuguese families
... 60 and 90 pathogenic mutations have already been reported respectively in COL4A5, COL4A4 and COL4A3 [The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff, ...Alport ... See full document
262
Arq Bras Endocrinol Metab vol.54 número8
... male syndrome – Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male ... See full document
5
Effect of water glass modification with nanoparticles of zinc oxide on selected physical and chemical properties of binder and mechanical properties of sand mixture
... wetting of the surface of the quartz grains (Fig. 3). Changes of contact angle in time are characterised by high values of both the initial contact angle θ 0 (about 45 ... See full document
4
Editor’s Pick: Clinical, Histological, and Molecular Classification of Hepatocellular Carcinoma: How Do They Get Along?
... direction of palliative therapy have recently been achieved, though most eforts have been correctly pointed towards surveillance and early diagnosis in high-risk ...0 and A (very early and ... See full document
7
Molecular biology and clinical implication of hepatitis C virus
... agent of non-A non-B hepatitis. It is a member of the Flaviviridae family and has been recognized as the major causative agent of chronic liver disease, including chronic active hepatitis, ... See full document
5
Filtration of aluminum alloys and its influence on mechanical properties and shape of eutectical silicium
... casting of high quality aluminum alloys belongs to main refining ...years of experiences and experimental works on this subject, there are still some specific ...casting of aluminum alloys, ... See full document
4
Cutaneous manifestations of antiphospholipid syndrome: a review of the clinical features, diagnosis and management
... nonspecific and not included in the classification criteria, dermatologic findings are frequent and may be the presenting feature making them an important clue in the diagnosis of this ...features ... See full document
9
MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.
... biopsies and tissues of MMR-deficient and MMR-proficient FXN GAA transgenic mice by standard phenol/chloroform extraction and ethanol precipita- ...size of the FXN gene (NG_008845) ... See full document
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