Astrid Golla
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Genetics and Neurodevelopmental Disorders, Craniofacial Disorders and Treatments, Cleft Lip and Palate Research, Genetic Associations and Epidemiology
Most-Cited Works
- → Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22(2002)186 cited
- → Heritability of Carotid Artery Atherosclerotic Lesions(2004)110 cited
- → Limited relevance of the CHEK2 gene in hereditary breast cancer(2004)92 cited
- → Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product(1996)86 cited
- → Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)(2000)86 cited
- → Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery(2000)86 cited
- → Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26(2008)78 cited
- Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.(1992)
- Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.(1990)
- → Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the α1, β1, and γ subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect(1993)43 cited