A. D. L. Chapelle

发表

Imerslund-Grasbeck Syndrome Associated With Recurrent Aphthous Stomatitis and Defective Neutrophil Function

R. Levy, S. M. Tanner, B. Yerushalmi, 2006, Journal of pediatric hematology/oncology.

Concomitant presentation of two chronic leukemias: Evidence for independent clonal evolution

A. de la Chapelle, O. Lassila, P. Klemi, 1980 .

Molecular characterization of chromosome 7 long arm deletions in myeloid disorders.

J. Kere, A. de la Chapelle, T. Ruutu, 1987, Blood.

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.

A. de la Chapelle, P. Sistonen, A. Lehesjoki, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

J. Kere, A. de la Chapelle, C. Maury, 1990, FEBS letters.

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion.

L. Kunkel, A. Covone, N. Archidiacono, 1989, American journal of human genetics.

Six-year follow-up of the clinical significance of karyotype in acute lymphoblastic leukemia.

C. Bloomfield, J. Rowley, A. de la Chapelle, 1989, Cancer genetics and cytogenetics.

Function of neutrophils in preleukaemia.

A. de la Chapelle, P. Ruutu, P. Vuopio, 2009, Scandinavian journal of haematology.

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

J. Kere, A. de la Chapelle, P. Höglund, 1994, American journal of human genetics.

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene.

A. de la Chapelle, P. Ylöstalo, K. Aittomäki, 1996, The Journal of clinical endocrinology and metabolism.

Pallister‐Killian syndrome: cytogenetic and molecular studies

A. Chapelle, I. Kaitila, S. Knuutila, 1987, Clinical genetics.

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family.

J. Kere, A. de la Chapelle, C. Maury, 1992, Genomics.

Cytogenetic studies of 21 patients with acute lymphoblastic leukemia in relapse.

C. Bloomfield, J. Rowley, A. de la Chapelle, 1989, Cancer genetics and cytogenetics.

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator.

J. Kere, A. de la Chapelle, P. Sistonen, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence

A. Chapelle, E. Sankila, A. Eriksson, 1987, Clinical genetics.

Homozygosity for the Asn187 gelsolin mutation in Finnish-type familial amyloidosis is associated with severe renal disease.

J. Kere, A. de la Chapelle, C. Maury, 1992, Genomics.

Cartilage-hair hypoplasia.

O. Mäkitie, I. Kaitila, A. de la Chapelle, 1995, Journal of medical genetics.

Clinical-cytogenetic correlations in myelodysplasia (preleukemia).

J. Rowley, O. Garson, F. Mitelman, 1989, Cancer genetics and cytogenetics.

Cytogenetic studies of 103 patients with acute myelogenous leukemia in relapse.

A. de la Chapelle, O. Garson, A. Hagemeijer, 1989, Cancer genetics and cytogenetics.

Culture of bone marrow reveals more cells with chromosomal abnormalities than the direct method in patients with hematologic disorders.

A. de la Chapelle, S. Knuutila, M. Siimes, 1981, Blood.