L. Morlé

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Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

B. Durand, D. Baas, T. Attié-Bitach, 2018, Human molecular genetics.

Heavy transfusions and presence of an anti-protein 4.2 antibody in 4. 2(-) hereditary spherocytosis (949delG).

H. Lutz, S. Perrotta, A. Iolascon, 2000, Haematologica.

Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio

S. Perrotta, A. Iolascon, J. Randon, 1997, British journal of haematology.

A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing.

J. Delaunay, P. Maillet, J. Delaunay, 1998, Blood.

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis

S. Hayette, O. Reman, P. Maillet, 1998, American journal of hematology.

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

S. Hayette, B. Forget, J. Delaunay, 1997, American journal of hematology.

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

S. Perrotta, A. Iolascon, S. Hayette, 1996, British journal of haematology.

A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia

M. Tanner, S. Hayette, C. M. Cohen, 1995, British journal of haematology.

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

M. Tanner, P. Maillet, M. Ribeiro, 1997, Blood.

Thalassemia‐like abnormalities of the red cell membrane in hemoglobin E trait and disease

J. Delaunay, O. Gentilhomme, E. Dorléac, 1984, American journal of hematology.

Kinetic alterations of the red cell membrane phosphatase in α‐ and β‐Thalassemia

D. Bachir, J. Delaunay, N. Alloisio, 1982 .

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

R. Rudigoz, M. Ribeiro, J. Delaunay, 2000, Blood.

Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis

P. Maillet, J. Delaunay, N. Alloisio, 1996, Human mutation.

Spα1/65 hereditary elliptocytosis in North Africa

M. Clerc, J. Delaunay, N. Alloisio, 1986 .

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

J. Delaunay, N. Alloisio, F. Baklouti, 1994, The Journal of clinical investigation.

The red cell skeleton and its genetic disorders.

J. Delaunay, N. Alloisio, B. Pothier, 1990, Molecular aspects of medicine.

Hereditary spherocytosis: from clinical to molecular defects.

S. Perrotta, A. Iolascon, J. Delaunay, 1998, Haematologica.

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

P. Denis, P. Edery, F. Béby, 2007, Archives of ophthalmology.

The Hb F composition in a Moroccan Family with β°-thalassaemia and Hb O-Arab

F. Morlé, J. Delaunay, F. Baklouti, 2009 .

The association of hemoglobin Knossos and hemoglobin Lepore in an Algerian patient.

F. Morlé, J. Delaunay, F. Baklouti, 1984, Hemoglobin.

Sickle cell β‐thalassaemia compared with sickle cell anaemia in Algeria

T. Henni, D. Bachir, J. Godet, 2009 .

Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta+-thalassemia intermedia associated with delta degree- thalassemia

J. Delaunay, D. Peyramond, F. Baklouti, 1986 .

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.

S. Perrotta, J. Delaunay, B. Nobili, 1998, The Journal of pediatrics.

thalassemia variety of beta+-thalassemia intermedia associated with delta degree- Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new

J. Delaunay, D. Peyramond, F. Baklouti, 2013 .

Transcriptional control of genes involved in ciliogenesis: a first step in making cilia

B. Durand, Joëlle Thomas, Sébastien Sagnol, 2010, Biology of the cell.

Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis.

C. Féo, M. Lecomte, D. Dhermy, 1987, Blood.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

C. Philippe, J. Zech, J. Lambert, 2000, American journal of human genetics.

Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

L. Kotula, L. Morlé, J. Delaunay, 1993, The Journal of clinical investigation.

RFX2 Is a Major Transcriptional Regulator of Spermiogenesis

B. Durand, W. Reith, E. Barras, 2015, PLoS genetics.

Elliptocytogenic alpha I/36 spectrin Sfax lacks nine amino acids in helix 3 of repeat 4. Evidence for the activation of a cryptic 5'-splice site in exon 8 of spectrin alpha-gene.

L. Denoroy, J. Delaunay, N. Alloisio, 1992, Blood.

Assignment of Sp alpha I/74 hereditary elliptocytosis to the alpha- or beta-chain of spectrin through in vitro dimer reconstitution.

J. Delaunay, N. Alloisio, N. Philippe, 1990, Blood.

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

P. Latour, G. Lina-Granade, H. Plauchu, 2000, Journal of medical genetics.

Kinetic alteration of the K+ -sensitive p-nitrophenylphosphatase in red cell membrane from beta-thalassemic patients.

F. Morlé, J. Delaunay, N. Alloisio, 1981, Clinica chimica acta; international journal of clinical chemistry.

Alterations of Globin Chain Synthesis and of Red Cell Membrane Proteins in Congenital Dyserythropoietic Anemia I and II

G. Margueritte, J. Delaunay, N. Alloisio, 1982, Pediatric Research.

Low Expression Allele aLELY of Red Cell Spectrin Is Associated with Mutations in Exon 40 (aV/4l Polymorphism) and Intron 45 and with Partial Skipping of Exon 46

L. Kotula, J. Delaunay, N. Alloisio, 2013 .

Sp alpha V/41: a common spectrin polymorphism at the alpha IV-alpha V domain junction. Relevance to the expression level of hereditary elliptocytosis due to alpha-spectrin variants located in trans.

J. Delaunay, N. Alloisio, F. Baklouti, 1991, The Journal of clinical investigation.

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

L. Morlé, J. Delaunay, N. Alloisio, 1991, British journal of haematology.

Spectrin Oran (alpha II/21), a new spectrin variant concerning the alpha II domain and causing severe elliptocytosis in the homozygous state.

J. Delaunay, J. Delaunay, N. Alloisio, 1988, Blood.

Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anaemia

C. Féo, P. Boivin, J. Delaunay, 1987, European journal of haematology.

Spa V / 41 : a Common Spectrin Polymorphism at the alV-aV Domain Junction Relevance to the Expression Level of Hereditary Elliptocytosis Due to a-Spectrin Variants Located in trans

J. Delaunay, N. Alloisio, F. Baklouti, 2022 .

An α-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the αV/41 polymorphism

J. Delaunay, D. Dhermy, M. Garbarz, 1993, Human Genetics.

Molecular genetics of hereditary elliptocytosis and hereditary spherocytosis.

P. Maillet, L. Morlé, J. Delaunay, 1996, Annales de genetique.

An alpha-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the alpha v/41 polymorphism.

J. Delaunay, D. Dhermy, M. Garbarz, 1993, Human genetics.

Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14

C. Gonnet, J. Zech, H. Plauchu, 1999, Graefe's Archive for Clinical and Experimental Ophthalmology.

The Ciliogenic Transcription Factor RFX3 Regulates Early Midline Distribution of Guidepost Neurons Required for Corpus Callosum Development

B. Durand, W. Reith, J. Hornung, 2012, PLoS genetics.

Molecular analysis of hereditary elliptocytosis with reduced protein 4.1 in the French Northern Alps.

E. Benz, N. Alloisio, S. Chabanis, 1991, Blood.

Genetic specification of left–right asymmetry in the diaphragm muscles and their motor innervation

Donna M. Martin, B. Durand, L. Moons, 2017, eLife.

Interplay of RFX transcription factors 1, 2 and 3 in motile ciliogenesis

B. Durand, W. Reith, Joëlle Thomas, 2020, Nucleic acids research.

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

B. Durand, W. Reith, Joëlle Thomas, 2009, Journal of Cell Science.

The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon.

B. Durand, S. Schurmans, M. Paschaki, 2015, Human molecular genetics.

The 4.1.(-) hereditary elliptocytosis.

J. Delaunay, N. Alloisio, L. Morlé, 1985, Acta medica portuguesa.

The heterozygous form of 4.1(-) hereditary elliptocytosis [the 4.1(-) trait].

D. Bachir, O. Gentilhomme, N. Alloisio, 1985, Blood.

Red cell membrane sialoglycoptein β in homozygous and heterozygous 4.1(−) hereditary elliptocytosis

D. Bachir, J. Delaunay, N. Alloisio, 1985 .

A haemolytic syndrome associated with the complete absence of red cell membrane protein 4.2 in two Tunisian siblings

C. Féo, J. Delaunay, N. Alloisio, 1990, British journal of haematology.

Mutation in the zonadhesin-like domain of α-tectorin associated with autosomal dominant non-syndromic hearing loss

L. Collet, K. Verhoeven, G. Lina-Granade, 1999, European Journal of Human Genetics.

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome

W. Berger, A. Fry, J. Zech, 2012, European Journal of Human Genetics.

A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia.

S. Hayette, J. Delaunay, D. Dhermy, 1995, Blood.

A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice

U. Wolfrum, N. Messaddeq, P. Kessler, 2015, Neurobiology of Disease.

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

S. Perrotta, A. Iolascon, E. M. Giudice, 1993 .

Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.

L. Denoroy, B. Forget, C. Féo, 1992, Blood.

Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT----GTT; alpha I 40 Gly----Val) and spectrin Lyon (CTT----TTT; alpha I 43 Leu---Phe).

F. Morlé, J. Starck, L. Denoroy, 1990, The Journal of clinical investigation.

Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG----TGG codon change (Arg----Trp) at position 35 of the alpha I domain.

F. Morlé, L. Denoroy, L. Morlé, 1989, Blood.

Spectrin Tunis (alpha I/78): a new alpha I variant that causes asymptomatic hereditary elliptocytosis in the heterozygous state.

J. Delaunay, N. Alloisio, R. Kastally, 1988, Blood.

Molecular genetics of hereditary spherocytosis

N. Alloisio, L. Morlé, J. Delaunay, 1996 .

Two Elliptocytogenic ai 174 Variants of the Spectrin al domain Spectrin Culoz ( GGT-RGTT ; al 40 Gly-oVal ) and Spectrin Lyon ( CTT-- ' TTT ; al 43 Leu-* Phe )

J. Starck, B. Forget, R. Rudigoz, 2022 .

Localization of a non‐syndromic X‐linked mental retardation gene (MRX80) to Xq22‐q24

R. Touraine, H. Plauchu, P. Edery, 2003, American journal of medical genetics. Part A.

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies.

B. Durand, W. Reith, Joëlle Thomas, 2009 .

Homozygous hemoglobin Knossos (alpha 2 beta 227(B9) Ala----Ser): a new variety of beta (+)-thalassemia intermedia associated with delta (0)-thalassemia.

J. Delaunay, D. Peyramond, F. Baklouti, 1986, Blood.

Total absence of protein 4.2 and partial deficiency of band 3 in hereditary spherocytosis

Y. Yawata, S. Hayette, H. Wada, 1997, British journal of haematology.