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De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome.
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- Molecular Syndromology, 2017, v. 8, n. 1, p. 24, doi. 10.1159/000452258
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- Publication type:
- Article
High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness.
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- Clinical Genetics, 1999, v. 55, n. 5, p. 382, doi. 10.1034/j.1399-0004.1999.550515.x
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- Article
Apolipoprotein E alleles in mothers of trisomy 18 conceptuses.
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- Clinical Genetics, 1998, v. 53, n. 4, p. 321, doi. 10.1111/j.1399-0004.1998.tb02707.x
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- Publication type:
- Article
Apolipoprotein E polymorphism in the Greek population.
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- Clinical Genetics, 1997, v. 52, n. 4, p. 216, doi. 10.1111/j.1399-0004.1997.tb02550.x
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- Publication type:
- Article
A Pvull polymorphism detected by a cDNA clone of the gene encoding the human spasmolytic protein (SML1 gene), one of three members of the trefoil peptide gene family clustered on chromosome 21q22.3.
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- Clinical Genetics, 1997, v. 52, n. 4, p. 247, doi. 10.1111/j.1399-0004.1997.tb02556.x
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- Publication type:
- Article
A patient with Edwards syndrome caused by a rare pseudodicentric chromosome 18 of paternal origin.
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- Clinical Genetics, 1997, v. 52, n. 1, p. 56, doi. 10.1111/j.1399-0004.1997.tb02515.x
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- Publication type:
- Article
Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10; 17) may indicate candidate gene regions.
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- Clinical Genetics, 1994, v. 45, n. 1, p. 11, doi. 10.1111/j.1399-0004.1994.tb03982.x
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- Article
Mitochondrial Disease Caused by a Novel Homozygous Mutation (Gly106del) in the SCO1 Gene.
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- Neonatology (16617800), 2019, v. 116, n. 3, p. 290, doi. 10.1159/000499488
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- Publication type:
- Article
SLITRK6 mutations cause myopia and deafness in humans and mice.
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- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2094, doi. 10.1172/JCI65853
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- Publication type:
- Article
Prenatal detection of full monosomy 21 in a fetus with increased nuchal translucency: Molecular cytogenetic analysis and review of the literature.
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- Journal of Obstetrics & Gynaecology Research, 2010, v. 36, n. 2, p. 435, doi. 10.1111/j.1447-0756.2009.01140.x
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- Article
A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.
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- Human Genetics, 2022, v. 141, n. 3/4, p. 951, doi. 10.1007/s00439-021-02334-8
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- Publication type:
- Article
Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
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- Journal of Human Genetics, 2010, v. 55, n. 5, p. 265, doi. 10.1038/jhg.2010.23
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- Publication type:
- Article
Novel association of FCGR2A polymorphism with age-related macular degeneration (AMD) and development of a novel CFH real-time genotyping method.
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- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 10, p. 1521, doi. 10.1515/cclm-2014-0920
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- Article
Biomarkers in primary open angle glaucoma.
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- Clinical Chemistry & Laboratory Medicine, 2012, v. 50, n. 12, p. 2107, doi. 10.1515/cclm-2012-0048
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- Publication type:
- Article
Age-related macular degeneration: genetic and clinical findings.
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- Clinical Chemistry & Laboratory Medicine, 2011, v. 49, n. 4, p. 601, doi. 10.1515/CCLM.2011.091
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- Publication type:
- Article
First reported adult patient with TARP syndrome: A case report.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2915, doi. 10.1002/ajmg.a.40638
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- Article
Ocular albinism with infertility and late‐onset sensorineural hearing loss.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1587, doi. 10.1002/ajmg.a.38836
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- Publication type:
- Article
Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2276, doi. 10.1002/ajmg.a.36652
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- Article
Pure de novo partial trisomy 6p in a girl with craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 343, doi. 10.1002/ajmg.a.35727
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- Publication type:
- Article
Complex distal 10q rearrangement in a girl with mild intellectual disability: Follow up of the patient and review of the literature of non-acrocentric satellited chromosomes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2841, doi. 10.1002/ajmg.a.34259
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- Publication type:
- Article
Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the TNFRSF11B "Balkan" Mutation (966̱969de1TGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels.
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- Journal of Bone & Mineral Research, 2007, v. 22, n. 6, p. 938, doi. 10.1359/JBMR.070307
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- Publication type:
- Article
Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis.
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- Prenatal Diagnosis, 2001, v. 21, n. 6, p. 484, doi. 10.1002/pd.79
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- Article
Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.
- Published in:
- 2001
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- Publication type:
- journal article
Rare chromosome 20 variants encountered during prenatal diagnosis.
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- 1986
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- Publication type:
- journal article
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.
- Published in:
- 2016
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- Publication type:
- journal article
Genotyping of presenilin-1 polymorphism in amyotrophic lateral sclerosis.
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- Journal of Neurology, 2000, v. 247, n. 12, p. 940, doi. 10.1007/s004150070050
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- Publication type:
- Article
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
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- Journal of Molecular Medicine, 2002, v. 80, n. 2, p. 124, doi. 10.1007/s00109-001-0310-6
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- Publication type:
- Article
Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.
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- Human Genetics, 2010, v. 128, n. 4, p. 411, doi. 10.1007/s00439-010-0864-x
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- Article
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13–16.1.
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- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 362, doi. 10.1038/sj.ejhg.5201761
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- Article
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.
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- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 694, doi. 10.1038/sj.ejhg.5200867
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- Article
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigree.
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- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200645
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- Publication type:
- Article
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report.
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- 2019
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- Publication type:
- journal article
The spectrum of intermediate SCN8A‐related epilepsy.
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- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 830, doi. 10.1111/epi.14705
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- Article
Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).
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- BMC Genetics, 2002, v. 3, p. 1
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- Publication type:
- Article
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
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- Children, 2022, v. 9, n. 12, p. 1879, doi. 10.3390/children9121879
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- Publication type:
- Article
Detection of deafness-causing mutations in the Greek mitochondrial genome.
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- Disease Markers, 2011, v. 30, n. 6, p. 283, doi. 10.1155/2011/350987
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- Publication type:
- Article
Investigating the impact of the Down syndrome related common MTHFR 677C>T polymorphism in the Danish population.
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- Disease Markers, 2009, v. 27, n. 6, p. 279, doi. 10.1155/2009/725614
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- Publication type:
- Article
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.797
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- Publication type:
- Article
Combined 22q11.1-q11.21 deletion with 15q11.2- q13.3 duplication identified by array-CGH in a 6 years old boy.
- Published in:
- 2011
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- Correction Notice
The use of array-CGH in a cohort of Greek children with developmental delay.
- Published in:
- Molecular Cytogenetics (17558166), 2010, v. 3, p. 22, doi. 10.1186/1755-8166-3-22
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- Publication type:
- Article
Combined 22q11.1-q11.21 deletion with 15q11.2- q13.3 duplication identified by array-CGH in a 6 years old boy.
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- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 6, doi. 10.1186/1755-8166-4-6
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- Publication type:
- Article
Investigation of associations of ARMS2, CD14, and TLR4 gene polymorphisms with wet age-related macular degeneration in a Greek population.
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- Clinical Ophthalmology, 2017, v. 11, p. 1347, doi. 10.2147/OPTH.S134538
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- Publication type:
- Article
Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1476, doi. 10.1002/ajmg.a.33981
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- Publication type:
- Article
A fetus with ring chromosome 21 characterized by aCGH shows no clinical findings after birth.
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- Prenatal Diagnosis, 2010, v. 30, n. 6, p. 586, doi. 10.1002/pd.2524
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- Publication type:
- Article
Prenatal diagnosis of a fetus with ring chromosome 15 characterized by array-CGH.
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- Prenatal Diagnosis, 2009, v. 29, n. 9, p. 884, doi. 10.1002/pd.2295
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- Publication type:
- Article
Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening.
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- Prenatal Diagnosis, 2008, v. 28, n. 6, p. 556, doi. 10.1002/pd.2020
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- Publication type:
- Article
Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
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- Prenatal Diagnosis, 2008, v. 28, n. 4, p. 309, doi. 10.1002/pd.1976
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- Publication type:
- Article
Prenatal diagnosis of glycogen storage disease type IV.
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- Prenatal Diagnosis, 2006, v. 26, n. 10, p. 951, doi. 10.1002/pd.1533
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- Publication type:
- Article
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.
- Published in:
- 2006
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- Publication type:
- journal article
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. 2, doi. 10.1002/humu.21397
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- Article