Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

Fitting a mixture model by expectation maximization to discover motifs in biopolymers.

1994 • 4,818 citations

Fluorescence detection in automated DNA sequence analysis

1986 • 1,694 citations

[32] GOR method for predicting protein secondary structure from amino acid sequence

1996 • 1,239 citations

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

1999 • 783 citations

Modeling stochastic gene expression: Implications for haploinsufficiency

1998 • 244 citations

Adenosine deaminase from human erythrocytes: Purification and effects of adenosine analogs

1975 • 204 citations

CONGENITAL HYPOPLASTIC ANEMIA

2009 • 188 citations

Diamond‐Blackfan anaemia in the U.K.: analysis of 80 cases from a 20‐year birth cohort

1996 • 159 citations

Elevated Erythrocyte Adenosine Deaminase Activity in Congenital Hypoplastic Anemia

1983 • 117 citations

A monocyte chemotactic factor, S19 ribosomal protein dimer, in phagocytic clearance of apoptotic cells.

1998 • 116 citations

Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis

1994 • 114 citations

Differential expression of S19 ribosomal protein, laminin-binding protein, and human lymphocyte antigen class I messenger RNAs associated with colon carcinoma progression and differentiation.

1992 • 109 citations

Drosophila ribosomal protein S3 contains an activity that cleaves DNA at apurinic/apyrimidinic sites.

1994 • 105 citations

Diamond-blackfan anemia: etiology, pathophysiology, and treatment.

1989 • 104 citations

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

1997 • 96 citations

In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia

1991 • 88 citations

Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity

1998 • 81 citations

Absence of abnormalities of c-kit or its ligand in two patients with Diamond-Blackfan anemia

1992 • 62 citations

Childhood red cell aplasia

1980 • 58 citations

Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.

1997 • 57 citations

Match-Box_server: a multiple sequence alignment tool placing emphasis on reliability

1997 • 50 citations

Diamond‐Blackfan anaemia in the Italian population

1999 • 42 citations

High Adenosine Deaminase Level Among Healthy Probands of Diamond Blackfan Anemia (DBA) Cosegregates With the DBA Gene Region on Chromosome 19q13

1998 • 41 citations

Age‐related alterations in erythroid and granulopoietic progenitors in Diamond‐Blackfan anaemia

1994 • 41 citations

Long-term bone marrow cultures in Diamond-Blackfan anemia reveal a defect of both granulomacrophage and erythroid progenitors

1999 • 40 citations

Diamond-Blackfan syndrome in adult patients

1985 • 36 citations

Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia

1996 • 34 citations

The SCF and c-kit genes in Diamond-Blackfan anemia [letter]

1992 • 29 citations

Early prenatal diagnosis of inherited severe immunodeficiencies linked to enzyme deficiencies

1987 • 24 citations

Current concepts and issues in Diamond-Blackfan anemia

1998 • 20 citations

Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia [letter]

1993 • 17 citations

Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q.

1997 • 10 citations

[Congenital hypoplastic anemia in The Netherlands (1963-1989)].

1991 • 7 citations

Diamond-blackfan anemia in pregnancy.

1994 • 7 citations