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Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Blood, 2000-08, Vol.96 (4), p.1602-1604

2000

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Truncated Hemoglobins in Actinorhizal Nodules of Datisca glomerata

Plant biology (Stuttgart, Germany), 2007-11, Vol.9 (6), p.776-785

2007

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Frankia alni Symbiotic Transcriptome

Molecular plant-microbe interactions, 2010-05, Vol.23 (5), p.593-607

2010

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A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

American journal of human genetics, 2000-12, Vol.67 (6), p.1592-1597

2000

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A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Journal of medical genetics, 2000-05, Vol.37 (5), p.368-370

2000

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Evidence That Red Blood Cell Protein p55 May Participate in the Skeleton-Membrane Linkage That Involves Protein 4.1 and Glycophorin C

Blood, 1993-08, Vol.82 (4), p.1323-1327

1993

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Early signaling in actinorhizal symbioses

Plant signaling & behavior, 2011-09, Vol.6 (9), p.1377-1379

2011

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The Cisternae Decorating the Red Blood Cell Membrane in Congenital Dyserythropoietic Anemia (Type II) Originate From the Endoplasmic Reticulum

Blood, 1996-05, Vol.87 (10), p.4433-4439

1996

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Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis

Blood, 1997-07, Vol.90 (1), p.414-420

1997

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Rare specific flavonoids affect differentially compatible and incompatible strains in the Myrica gale-Frankia actinorhizal symbiosis

Applied and environmental microbiology, 2010, Vol.76, p.2451-2460

2010

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Suppression of CDA II expression in a homozygote

British journal of haematology, 1999-09, Vol.106 (4), p.948-953

1999

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A Deletional Frameshift Mutation in Protein 4.2 Gene (Allele 4.2 Lisboa) Associated With Hereditary Hemolytic Anemia

Blood, 1995-01, Vol.85 (1), p.250-256

1995

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Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis

British journal of haematology, 1996-06, Vol.93 (4), p.828-834

1996

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Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton

The Journal of clinical investigation, 1994-10, Vol.94 (4), p.1651-1656

1994

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Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

American journal of hematology, 1998-05, Vol.58 (1), p.36-41

1998

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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene

The Journal of clinical investigation, 1992-11, Vol.90 (5), p.1713-1717

1992

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Ankyrin Bugey: A de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis

American journal of hematology, 1997-03, Vol.54 (3), p.242-248

1997

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Les surdités génétiques : première cause de surdité de perception de l’enfant

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2001-03, Vol.8 (3), p.308-312

2001

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Genetic deafness:the primary cause of sensorineural hearing loss in children

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2001-03, Vol.8 (3), p.308-312

2001

Volltextzugriff (PDF)

Hereditary xerocytosis: a report of six unrelated Spanish families with leaky red cell syndrome and increased heat stability of the erythrocyte membrane

British journal of haematology, 1995-08, Vol.90 (4), p.817-822

1995

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Severe poikilocytosis associated with a de novoα28 Arg→Cys mutation in spectrin

British journal of haematology, 1993-01, Vol.83 (1), p.152-157

1993

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Elliptopoikilocytosis Associated With the α469 His → Pro Mutation in Spectrin Barcelona (αI/50-46b)

Blood, 1993-09, Vol.82 (5), p.1661-1665

1993

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Hereditary spherocytosis: from clinical to molecular defects

Haematologica (Roma), 1998-03, Vol.83 (3), p.240

1998

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Reduction of membrane band 7 and activation of volume stimulated (K+, Cl−)‐cotransport in a case of congenital stomatocytosis

British journal of haematology, 1989-01, Vol.71 (1), p.141-146

1989

Volltextzugriff (PDF)

Occurrence of the αI 22 Arg→His (CGT→CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis

British journal of haematology, 1991-05, Vol.78 (1), p.108-113

1991

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Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3

Truncated Hemoglobins in Actinorhizal Nodules of Datisca glomerata

Frankia alni Symbiotic Transcriptome

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Evidence That Red Blood Cell Protein p55 May Participate in the Skeleton-Membrane Linkage That Involves Protein 4.1 and Glycophorin C

Early signaling in actinorhizal symbioses

The Cisternae Decorating the Red Blood Cell Membrane in Congenital Dyserythropoietic Anemia (Type II) Originate From the Endoplasmic Reticulum

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis

Rare specific flavonoids affect differentially compatible and incompatible strains in the Myrica gale-Frankia actinorhizal symbiosis

Suppression of CDA II expression in a homozygote

A Deletional Frameshift Mutation in Protein 4.2 Gene (Allele 4.2 Lisboa) Associated With Hereditary Hemolytic Anemia

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis

Protein 4.1 deficiency associated with an altered binding to the spectrin-actin complex of the red cell membrane skeleton

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene

Ankyrin Bugey: A de novo deletional frameshift variant in exon 6 of the ankyrin gene associated with spherocytosis

Les surdités génétiques : première cause de surdité de perception de l’enfant

Genetic deafness:the primary cause of sensorineural hearing loss in children

Hereditary xerocytosis: a report of six unrelated Spanish families with leaky red cell syndrome and increased heat stability of the erythrocyte membrane

Severe poikilocytosis associated with a de novoα28 Arg→Cys mutation in spectrin

Elliptopoikilocytosis Associated With the α469 His → Pro Mutation in Spectrin Barcelona (αI/50-46b)

Hereditary spherocytosis: from clinical to molecular defects

Reduction of membrane band 7 and activation of volume stimulated (K+, Cl−)‐cotransport in a case of congenital stomatocytosis

Occurrence of the αI 22 Arg→His (CGT→CAT) spectrin mutation in Tunisia: potential association with severe elliptopoikilocytosis

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