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Familial partial lipodystrophy: two types of an X linked dominant ... Familial Partial Lipodystrophy Phenotype Resulting from a Single-Base Mutation in Deoxyribonucleic Acid-Binding Domain of Peroxisome Proliferator-Activated ... 2.
Spastic paraparesis, cerebellar ataxia, and intention tremor: a ... Carriers evelop progressive intention tremor, cerebellar ataxia, ..... Tartaglino L, Lublin F, McCarren D. X-linked pure familial spastic paraparesis. ... 3.
A new syndrome, congenital extraocular muscle fibrosis with ulnar ... [Abstract/Free Full Text]; Wang SM, Zwaan J, Mullaney PB, Jabak MH, Al-Awad A, Beggs AH, Engle EC. Congenital fibrosis of the extraocular muscles type 2, ... 4.
Assignment of a new congenital fibrosis of extraocular muscles ... Southern blot analyses with overlapping probes selected to span the full .... In affected patients from our family, the extraocular muscles appeared normal ... 5.
Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22;q13 ... Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22;q13)mat. GB Cote, S Papadakou-Lagoyanni and S Sbyrakis. A case of partial trisomy 6p is ... 6.
A genetic screening programme for Tay-Sachs disease and cystic ... 2 Pacific Laboratory Medicine Services (PaLMS), Northern Sydney Health, St Leonards, NSW 2065, Australia 3 Kolling Institute of Medical Research, ... 7.
Mutations in LAMB2 causing a severe form of synaptic congenital ... Conclusion: This case, which represents a new type of synaptic CMS, exemplifies the wide variability of phenotypes associated with LAMB2 mutations and ... 8.
Clinical and molecular features associated with biallelic ... We identified published cases with biallelic mutations in FANCD1/BRCA2 from a PubMed search using combinations of the terms "Fanconi Anemia", "FANCD1", ... 9.
Clinical and molecular features associated with biallelic ... Jan 1, 2007 ... Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. Blanche P. Alter 1*, Philip S Rosenberg 2 and Lawrence ... 10.
Fanconi anaemia -- Tischkowitz and Hodgson 40 (1): 1 -- Journal of ... Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens ..... Oxygen-dependence of chromosomal aberrations in Fanconi’s anaemia. ... |
