Nothing Special   »   [go: up one dir, main page]

Feldman et al., 2006 - Google Patents

Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to …

Feldman et al., 2006

View PDF
Document ID
1143544578663115662
Author
Feldman M
Prikis M
Athanasiou Y
Elia A
Pierides A
Deltas C
Publication year
Publication venue
Clinical genetics

External Links

Snippet

The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal‐dominant and recessive mode of inheritance. The basic defect is linked to the renal part of acid–base homeostasis, which is …
Continue reading at www.academia.edu (PDF) (other versions)

Classifications

    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins
    • A61K31/435—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins having six-membered rings with one nitrogen as the only ring hetero atom
    • A61K31/44—Non condensed pyridines; Hydrogenated derivatives thereof
    • A61K31/455—Nicotinic acids, e.g. niacin; Derivatives thereof, e.g. esters, amides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K31/00—Medicinal preparations containing organic active ingredients
    • A61K31/33—Heterocyclic compounds
    • A61K31/395—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins
    • A61K31/495—Heterocyclic compounds having nitrogen as a ring hetero atom, e.g. guanethidine, rifamycins having six-membered rings with two or more nitrogen atoms as the only ring heteroatoms, e.g. piperazine or tetrazines
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
    • C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A61K45/06—Mixtures of active ingredients without chemical characterisation, e.g. antiphlogistics and cardiaca
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL, OR TOILET PURPOSES
    • A61K35/00—Medicinal preparations containing materials or reaction products thereof with undetermined constitution
    • A61K35/12—Materials from mammals; Compositions comprising non-specified tissues or cells; Compositions comprising non-embryonic stem cells; Genetically modified cells

Similar Documents

Publication Publication Date Title
Yang et al. Mitochondrial DNA mutation exacerbates female reproductive aging via impairment of the NADH/NAD+ redox
Borthwick et al. A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
Farrer et al. Comparison of kindreds with parkinsonism and α‐synuclein genomic multiplications
Gasser et al. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes
Kim et al. Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid‐intolerant asthma
Feldman et al. Molecular investigation and long‐term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene
Pastor et al. MAPT H1 Haplotype is Associated with Late-Onset Alzheimer’s Disease Risk in APOE ɛ 4 Noncarriers: Results from the Dementia Genetics Spanish Consortium
Kenna et al. A within‐group design of nontreatment seeking 5‐HTTLPR genotyped alcohol‐dependent subjects receiving ondansetron and sertraline
Yenchitsomanus et al. Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene
Bah et al. Maternal transmission disequilibrium of the glutamate receptor GRIK2 in schizophrenia
Poll‐The et al. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
Hashemi et al. Clinical spectrum in multiple families with primary COQ10 deficiency
Delmiro et al. Whole‐Exome Sequencing Identifies a Variant of the Mitochondrial MT‐ND 1 Gene Associated with Epileptic Encephalopathy: W est Syndrome Evolving to L ennox–G astaut Syndrome
Sritippayawan et al. Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis
Zhang et al. Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis
Shino et al. Familial congenital methemoglobinemia in Pomeranian dogs caused by a missense variant in the NADH‐cytochrome B5 reductase gene
Pereira et al. Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis
Ciara et al. DHCR7 mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome
Takahashi et al. Family‐based association study of markers on chromosome 22 in schizophrenia using African‐American, European‐American, and Chinese families
Hahn et al. ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child
Woodiwiss et al. Functional variants of the angiotensinogen gene determine antihypertensive responses to angiotensin-converting enzyme inhibitors in subjects of African origin
Waye et al. Hb S/β°‐Thalassemia due to the˜ 1.4‐kb deletion is associated with a relatively mild phenotype
Nikki et al. Endolymphatic sac enlargement in a girl with a novel mutation for distal renal tubular acidosis and severe deafness
Sethi et al. Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.
Gómez et al. Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population