A. Golla

发表

Heritability of Carotid Artery Atherosclerotic Lesions

T. Klockgether, C. Pohl, C. Grothe, 2004 .

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

A. Ballabio, T. Meitinger, C. Petit, 1990, American journal of human genetics.

Three novel mutations (I506S, S466X, 1651A→T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of Southern German Descent

T. Meitinger, H. Achatz, T. Deufel, 1994, Human mutation.

Family‐based association studies of α‐adrenergic receptor genes in chromosomal regions with linkage to bipolar affective disorder

S. Cichon, M. Rietschel, M. Nöthen, 2004 .

Geographic distribution and origin of CFTR mutations in Germany

X. Estivill, T. Meitinger, T. Dörk, 1996, Human Genetics.

Evidence for genetic heterogeneity of malignant hyperthermia susceptibility.

T. Meitinger, A. Meindl, D. Schindelhauer, 1992, American journal of human genetics.

Limited relevance of the CHEK2 gene in hereditary breast cancer

A. Meindl, R. Schmutzler, M. Kiechle, 2004, International journal of cancer.

Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product

A. Meindl, H. Hellebrand, D. Schindelhauer, 1996, Human Genetics.

Genetic analysis of phenotypes derived from longitudinal data: Presentation Group 1 of Genetic Analysis Workshop 13

K. Strauch, M. Baur, M. Wilcox, 2003, Genetic epidemiology.

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26.

M. Nöthen, H. Hennies, A. Hillmer, 2008, American journal of human genetics.

Genotype–phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery

S. Schuffenhauer, A. Golla, S. von Gernet, 2000, Clinical genetics.

Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22

T. Meitinger, J. Ramser, A. Meindl, 2002, European Journal of Human Genetics.

Detection of 100% of the CFTR mutations in 63 CF families from Tyrol

T. Dörk, W. Antonin, J. Schmidtke, 1997, Clinical genetics.

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

Thomas Deufel, Frank Lehmann-Horn, P. Powers, 1993 .

Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.

A Golla, P. Powers, F. Lehmann-Horn, 1993, Human molecular genetics.

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

T. Meitinger, S. Uhrig, M. Speicher, 2000, American journal of human genetics.

Heritability of Carotid Artery Atherosclerotic Lesions: An Ultrasound Study in 154 Families

T. Klockgether, C. Pohl, C. Grothe, 2005, Stroke.

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33).

A. Meindl, I. Rost, O. Rittinger, 1996, American journal of medical genetics.

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

T. Meitinger, T. Deufel, C. Aulehla‐Scholz, 1994, Human mutation.

MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation.

I. Rost, J. Murken, E. Holinski-Feder, 2002, American journal of medical genetics.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

S. Schuffenhauer, A. Winterpacht, J. Murken, 1997, Journal of medical genetics.

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

T. Meitinger, S. Schuffenhauer, P. Lichtner, 1996, American journal of medical genetics.

Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.

O. Rittinger, J. Murken, C. Lenski, 1999, American journal of medical genetics.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

S. Schuffenhauer, P. Lichtner, A. Winterpacht, 1997, Journal of medical genetics.

Weighting Schemes in Pooled Linkage Analysis

S Loesgen, A Dempfle, A Golla, 2001, Genetic epidemiology.

Quantitative trait linkage analysis of longitudinal change in body weight

K. Strauch, M. Baur, J. Dietter, 2003, BMC Genetics.