A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy
Keywords: جهش رمان; Novel mutation; Mitochondrial DNA; MTTK gene; tRNAlys;
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Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation
Keywords: جهش رمان; Hereditary neuropathy with liability to pressure palsies; Novel mutation; MRI; PMP22; No recurrent palsies with pain;
A novel mutation outside homeodomain of HOXD13 causes synpolydactyly in a Chinese family
Keywords: جهش رمان; Synpolydactyly; Novel mutation; Hoxd13; Homeodomain; Luciferase assays;
The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation
Keywords: جهش رمان; SCO2; synthesis of COX, cytochrome c oxidase; OXPHOS; oxidative phosphorylation; SMA; spinal muscular atrophy; SCO2 gene mutations; Novel mutation; Natural history; Genotype-phenotype correlation;
Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene
Keywords: جهش رمان; FH, Fumarate hydratase gene; FH, Fumarate hydratase protein; HLRCC, hereditary leiomyomatosis and renal cell cancer; HIF, hypoxia-inducable factorFumaric aciduria; Novel mutation; Leiomyoma
Alexander disease with mild dorsal brainstem atrophy and infantile spasms
Keywords: جهش رمان; Alexander disease; Glial fibrillary acidic protein gene; Infantile spasms; Brainstem; Hypsarrhythmia; Novel mutation
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family
Keywords: جهش رمان; COCH; DFNA9; Hearing impairment; Vestibular dysfunction; Novel mutation
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong
Keywords: جهش رمان; Expanded newborn screening; FAH gene; Hong Kong Chinese; Inborn errors of metabolism; Novel mutation; Tyrosinemia type I
A novel homozygous mutation in the parathyroid hormone gene (PTH) in a girl with isolated hypoparathyroidism
Keywords: جهش رمان; PTH; Isolated hypoparathyroidism; Novel mutation;
Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians
Keywords: جهش رمان; CF; V456A; Novel mutation; South Asian; Lung disease; Female; Delayed diagnosis;
Novel heterozygous mutation c.662_663insG compound with IVS7-2A > G mutation in SLC26A4 gene in a Chinese family with Pendred syndrome
Keywords: جهش رمان; SLC26A4; Pendred syndrome; Novel mutation
Novel V97G ASAH1 mutation found in Farber disease patients: Unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system
Keywords: جهش رمان; ASAH1; Farber disease; Novel mutation; V97G; Unique phenotype
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria
Keywords: جهش رمان; Malonyl coenzyme A decarboxylase deficiency; Inborn errors of metabolism; Brain abnormality; MLYCD; Novel mutation;
Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss
Keywords: جهش رمان; Novel mutation; Pendrin; Slc26a4; Pendred syndrome (PS); Deafness; Linkage analysis; Iran
Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity
Keywords: جهش رمان; Obesity; Leptin receptor gene; Novel mutation;
Identification of a novel mutation in exon 1 of androgen receptor gene in an azoospermic patient with mild androgen insensitivity syndrome: case report and literature review
Keywords: جهش رمان; Novel mutation; androgen receptor; azoospermia; mild androgen insensitivity syndrome
Identification of HNF1A-MODY and HNF4A-MODY in Irish families: Phenotypic characteristics and therapeutic implications
Keywords: جهش رمان; HNF1A-MODY; HNF4A-MODY; Novel mutation; Phenotype; IrishMODY; Mutations HNF-1A; mutations HNF-4A; Nouvelles mutations; Phénotype; Enquête génétique; IrlandeMODY, maturity-onset of diabetes of the young; HNF, hepatocyte nuclear factor; T2DM, type 2 diabete
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery–Dreifuss muscular dystrophy
Keywords: جهش رمان; Sudden cardiac death; X-linked Emery–Dreifuss muscular dystrophy; Implantable cardioverter-defibrillator; Novel mutation; Primary prevention; Cardiomyopathy
Identification of two novel mutations, c.232T>C and c.2006A>T, in SLC26A4 in a Chinese family associated with enlarged vestibular aqueduct
Keywords: جهش رمان; Enlarged vestibular aqueduct syndrome; SLC26A4; Novel mutation; c.232T>C; c.2006A>T
A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient
Keywords: جهش رمان; Leptin; Novel mutation; Egyptian patient; Obesity
A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family
Keywords: جهش رمان; Autosomal recessive hearing loss; Novel mutation; Connexin 26; GJB2; Consanguinity
Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
Keywords: جهش رمان; Autosomal recessive hearing loss; Enlarged vestibular aqueduct; Novel mutation; SLC26A4; Pendred syndrome
Carney complex: A clinicopathologic and molecular biological study of a sporadic case, including extracutaneous and cutaneous lesions and a novel mutation of the PRKAR1A gene
Keywords: جهش رمان; blue nevus; cardiac myxomas; Carney complex; chromosome 17q24; cutaneous myxomas; novel mutation; PRKAR1A gene
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients
Keywords: جهش رمان; Familial hypercholesterolemia; Low-density lipoprotein receptor; Novel mutation; Chinese population; Homozygous phenotypeFH, familial hypercholesterolemia; LDL-R, low-density lipoprotein receptor; LDL-C, LDL cholesterol; CHD, coronary heart disease; IMT,
Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene
Keywords: جهش رمان; Androgen receptor; CAIS; novel mutation; Müllerian duct remnants; c.2494delA; c.T3004C;
Clinical and genetic analysis of Fabry disease: Report of six cases including three heterozygous females
Keywords: جهش رمان; Fabry disease; Heterozygous female; Novel mutation; Genotype-phenotype correlation;
Study of the poliovirus receptor related-1 gene in Thai patients with non-syndromic cleft lip with or without cleft palate
Keywords: جهش رمان; PVRL1; non-syndromic cleft lip with or without cleft palate; Thai; novel mutation
The role of complex I genes in MELAS: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA
Keywords: جهش رمان; MELAS; Complex I; Novel mutation
Characterization of a novel p.S305P and a known c.1006Â +5GÂ >Â C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II
Keywords: جهش رمان; Mucopolysaccharidosis type II; Iduronate-2-sulfatase; Novel mutation; Donor splice site; Genotype-molecular phenotype correlation;
Mutation analysis of Taiwanese Wilson disease patients
Keywords: جهش رمان; Wilson disease; SSCP; Mutation; Exon sequencing; Novel mutation;
Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
Keywords: جهش رمان; Batten disease; CLN3; Novel mutation; JNCL; Juvenile Neuronal Ceroid Lipofuscinosis;
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia
Keywords: جهش رمان; Mitochondrial disease; Multiple mitochondrial DNA deletions; Novel mutation; ANT1 gene;
PRKAR1A gene mutation in patients with cardiac myxoma
Keywords: جهش رمان; Cardiac myxoma; Carney complex; PRKAR1A gene; Novel mutation;