Search Results

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

• Authors : Orrù, S; Manolakos, E; Orrù, N

Subjects: AMYOTROPHIC lateral sclerosis; GENE frequency; GENETIC mutation

• Source: Clinical Genetics; Feb2012, Vol. 81 Issue 2, p172-178, 7p, 2 Charts, 2 Graphs

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De novo inverted interstitial duplication 8q22.1-q21.1 in a boy with moderate learning disabilities, mild autistic and dysmorphic features.

• Authors : Kolaitis G; Papanikolaou K; Paliokosta E

• Source: Advances in Mental Health & Learning Disabilities; Jun2009, Vol. 3 Issue 2, p48-52, 5p

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Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

• Authors : Hilgert, N; Alasti, F; Dieltjens, N

Subjects: DEAFNESS; GENETIC mutation; NUCLEOTIDE sequence

• Source: Clinical Genetics; Sep2008, Vol. 74 Issue 3, p223-232, 10p, 1 Diagram, 3 Charts, 1 Graph

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Non-syndromic autosomal-dominant deafness.

• Authors : Petersen, MB

Subjects: GENETICS of deafness; GENE mapping; MEDICAL genetics

• Source: Clinical Genetics; Jul2002, Vol. 62 Issue 1, p1-13, 13p

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Angelman syndrome with uniparental disomy due to paternal meiosis II nondisjunction.

• Authors : Gyftodimou, J; Karadima, G; Pandelia, E

Subjects: ANGELMAN syndrome; MEIOSIS; CHROMOSOME abnormalities

• Source: Clinical Genetics; Jun99, Vol. 55 Issue 6, p483-486, 4p

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Patient survival after total knee arthroplasty: 5-year data in 926 patients.

• Authors : Schroder HM; Kristensen P; Petersen MB

• Source: Acta Orthopaedica Scandinavica; 1998, Vol. 69 Issue 1, p35-38, 4p

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Review. Origin and mechanisms of non-disjunction in human autosomal trisomies.

• Authors : Nicolaidis, P; Petersen, MB

• Source: Human Reproduction; Feb1998, Vol. 13 Issue 2, p313-319, 7p

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Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.

• Authors : Schulze, A; Hansen, C; Bækgaard, P

• Source: Acta Paediatrica; Aug1997, Vol. 86 Issue 8, p906-910, 5p

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Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation.

• Authors : Pampanos, A; Neou, P; Iliades, T

Subjects: GENETICS of deafness; CONNEXINS; MEDICAL genetics

• Source: Clinical Genetics; Mar2000, Vol. 57 Issue 3, p232-234, 3p, 1 Diagram

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Bone mineral density around femoral stems: DXA measurements in 22 porous-coated implants after 5 years.

• Authors : Petersen MB; Kolthoff N; Eiken P

• Source: Acta Orthopaedica Scandinavica; 1995, Vol. 66 Issue 5, p432-434, 3p

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