Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome)

The DNA sequence of human chromosome 22

1999 • 1,167 citations

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

2000 • 420 citations

Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes.

1991 • 270 citations

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly

2000 • 249 citations

Differential localization of myosin-II isozymes in human cultured cells and blood cells

1994 • 249 citations

Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity 1 1Edited by J. Karn

1999 • 225 citations

Human nonmuscle myosin heavy chain mRNA: generation of diversity through alternative polyadenylylation.

1990 • 121 citations

Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions

1990 • 91 citations

May‐Hegglin Anomaly: A Defect in Megakaryocyte Fragmentation?

1974 • 76 citations

Cellular myosin heavy chain in human leukocytes: isolation of 5' cDNA clones, characterization of the protein, chromosomal localization, and upregulation during myeloid differentiation

1991 • 71 citations

Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX [see comments]

1994 • 62 citations

The May-Hegglin Anomaly: Platelet Function, Ultrastructure and Chromosome Studies

1968 • 44 citations

The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1

2000 • 44 citations

Mapping of a gene for May-Hegglin anomaly to chromosome 22q

1999 • 43 citations

Platelet membrane studies in the May-Hegglin anomaly

1981 • 42 citations

Fechtner syndrome: report of a third family and literature review

1993 • 35 citations

Simultaneous Constitutional Changes In Neutrophils and Platelets.

1945 • 34 citations

Homozygous Pro74 → Arg Mutation in the Platelet Glycoprotein Ibβ Gene Associated with Bernard-Soulier Syndrome

2000 • 24 citations

Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13

2000 • 15 citations

The first Japanese family with Sebastian platelet syndrome.

1999 • 8 citations

Platelet Studies in the Pathogenesis of Thrombocytopenia in May-Hegglin Anomaly

1991 • 8 citations