Multiple displacement amplification improves PGD for fragile X syndrome (2006)
Burlet, P., Frydman, N., Gigarel, N., Kerbrat, V., Tachdjian, G., Feyereisen, E., ...
We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large amounts of DNA from single cells. Taking...
Multiple displacement amplification improves PGD for fragile X syndrome (2006)
Burlet, P., Frydman, N., Gigarel, N., Kerbrat, V., Tachdjian, G., Feyereisen, E., ...
We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large amounts of DNA from single cells. Taking...
Pressure dependence of magnetism in URu2Si2 (2003)
Bourdarot, F., Fak, B., Mineev, V. P., Zhitomirsky, M. E., Kernavanois, N., Raymond, S., ...
Neutron-scattering and specific-heat measurements of the heavy-fermion superconductor URu2Si2 under hydrostatic pressure and with Rh-doping [U(Ru{0.98}Rh{0.02})2Si2] show the existence of two...
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 (2002)
Viollet, L., Barois, A., Rebeiz, J. G., Rifai, Z., Burlet, P., Zarhrate, M., ...
Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior born cell degeneration and characterized by progressive motor weakness and muscular...
Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13 (2002)
Viollet, L., Barois, A., Rebeiz, J. G., Rifai, Z., Burlet, P., Zarhrate, M., ...
Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior born cell degeneration and characterized by progressive motor weakness and muscular...
Magnetic structures of UniAl in magnetic fields (1999)
Prokes, K., Bourdarot, F., Burlet, P., Olsovec, M., Sechovsky, V., Javorsky, P., ...
Antiferromagnetic structure of UNiAl (1998)
Prokes, K., Bourdarot, F., Bruck, E.H., Burlet, P., Javorsky, P., Olsovec, M.
Magnetic phases and magnetoelastic phenomena in UNiGa under pressure (1998)
Brück, E.H., Prokes, K., Olsovec, M., Bourdarot, F., Burlet, P., Kagayama, T.
Magnetic phases and magnetoelastic phenomena in UNiGa under pressure (1998)
Honda, F., Prokes, K., Olsovec, M., Bourdarot, F., Burlet, P., Kagayama, T., ...
Antiferromagnetic structure of UNiAl (1998)
Menovsky, A.A., Prokes, K., Bourdarot, F., Burlet, P., Javorsky, P., Olsovec, M., ...
Bourges, Ph., Regnault, L. P., Sidis, Y., Bossy, J., Burlet, P., Vettier, C., ...
Inelastic neutron scattering has been used to determine the dynamic spin fluctuations in an underdoped high temperature superconductor YBCO_{6.8} single crystal. The magnetic resonance, that occurs...
Unusual magnetic interactions in compounds with the ThMn12 structure (1997)
Paixao, J A, Langridge, S, Sorenson, S A, Lebech, B, Goncalves, A P, Lander, G H, ...
Magnetic order of the heavy-fermion URu2Si2 in a field of 12 T (1997)
Dijk, N.H. Van, Bourdarot, F., Fak, B., Lapierre, F., Regnault, L.P., Burlet, P., ...
Neutron scattering study of transverse magnetism (1996)
Binek, Christian, Kato, T., Kleeman, W., Petracic, O., Bertrand, D., Bourdarot, F., ...
In order to clarify the nature of the additional phase transition at H1 (T) < Hc (T) of the layered antiferromagnetic (AF) insulator FeBr2 as found by Aruga Katori et al. (1996) we measured the...
Giant magnetoresistance and magnetic phase diagram of UNiGa (1996)
Prokes, K., Bruck, E.H., Boer, F.R. De, Mihalik, M., Menovsky, A.A., Burlet, P., ...
Magnetic phase diagram of UNiGa (1995)
Sechovsky, V., Havela, L., Svoboda, P., Andreev, A.V., Burlet, P., Prokes, K., ...
Trinucleotide repeat polymorphism at the D5S556 locus (1993)
Burlet, P, Abdelhak, S, Pascal, F, Clermont, O, Paul, B, Munnich, A, ...
LES VOIX PATHOLOGIQUES, ESSAI D'ÉVALUATION OBJECTIVE (1990)
Berger-Vachon, C., Burlet, P., Collet, L., Kauffman, I.
L'exploration des voix pathologiques est un objectif de recherche clinique et fondamental très attractif. Néanmoins, la variabilité inhérente à la voix rend très difficile les tentatives de...
LES VOIX PATHOLOGIQUES, ESSAI D'ÉVALUATION OBJECTIVE (1990)
Berger-Vachon, C., Burlet, P., Collet, L., Kauffman, I.
L'exploration des voix pathologiques est un objectif de recherche clinique et fondamental très attractif. Néanmoins, la variabilité inhérente à la voix rend très difficile les tentatives de...
LES VOIX PATHOLOGIQUES, ESSAI D'ÉVALUATION OBJECTIVE (1990)
Berger-Vachon, C., Burlet, P., Collet, L., Kauffman, I.
L'exploration des voix pathologiques est un objectif de recherche clinique et fondamental très attractif. Néanmoins, la variabilité inhérente à la voix rend très difficile les tentatives de...
A PstI polymorphism at the D5S39 locus (1990)
Abdelhak, S., Melki, J., Bachelot, M.F., Burlet, P., Sheth, P., Frézal, J., ...
A PstI polymorphism at the D5S39 locus (1990)
Abdelhak, S, Melki, J, Bachelot, MF, Burlet, P, Sheth, P, Frezal, J, ...
A SINGLE CRYSTAL NEUTRON SCATTERING STUDY OF THE MAGNETIC ORDERING IN PRASEODIMIUM HEXABORIDE (1988)
Burlet, P., Effantin, J., Rossat-Mignod, J., Kunii, S., Kasuya, T.
The magnetic ordering in PrB6 has been studied by neutron diffraction on single crystal. PrB6 orders at TN=6.9 K in an incommensurate double-k structure. At TIC= 3.9 K a lock-in transition leads to a...
ANTIFERROMAGNETIC ORDERING AND PHASE DIAGRAM OF YBa2Cu3O6+x (1988)
Rossat-Mignod, J., Burlet, P., Jurgens, M., Vettier, C., Regnault, L., Henry, J., ...
Neutron scattering experiments on single crystals have allowed an accurate determination of the magnetic phase diagram of YBa2Cu3O6+x. With increasing oxygen content the antiferromagnetic ordering of...
MAGNETIC AND ELECTRONIC PROPERTIES OF NEPTUNIUM AND PLUTONIUM COMPOUNDS (1988)
Burlet, P., Fournier, J., Pleska, E., Quezel, S., Rossat-Mignod, J., Spirlet, J., ...
The magnetic and electrical transport properties of the U, Np and Pu monopnictides and monochalcogenides are reviewed. The results of single crystal measurements on Np and Pu compounds are...
MÖSSBAUER AND NEUTRON DIFFRACTION STUDIES OF NpRu2Si2 (1988)
Bonnisseau, D., Burlet, P., Bogé, M., Quezel, S., Rossat-Mignod, J., Spirlet, J., ...
NpRu2Si2 has been studied by Mössbauer spectroscopy on powder samples and by neutron diffraction on a single crystal. Below TN=27.5 ± 0.5 K the magnetic ordering is incommensurate (k = [00k] , mk...
Kuznietz, M., Burlet, P., Rossat-Mignod, J., Vogt, O., Mattenberger, K., Bartholin, H.
The magnetic phase diagram (magnetic field versus temperature) of UAs0.75Se0.25 has been determined by neutron diffraction and magnetization of single crystals in magnetic fields up to 67.2 and 190...
Mossbauer spectroscopy and neutron diffraction studies of neptunium antimonide NpSb (1988)
Sanchez, J.P., Burlet, P., Quezel, S., Bonnisseau, D., Rossat-Mignod, J., Spirlet, J.C., ...
Mossbauer spectroscopy and neutron diffraction studies of neptunium antimonide NpSb (1988)
Sanchez, J.P., Burlet, P., Quezel, S., Bonnisseau, D., Rossat-Mignod, J., Spirlet, J.C., ...
A SINGLE CRYSTAL NEUTRON SCATTERING STUDY OF THE MAGNETIC ORDERING IN PRASEODIMIUM HEXABORIDE (1988)
Burlet, P., Effantin, J., Rossat-Mignod, J., Kunii, S., Kasuya, T.
The magnetic ordering in PrB6 has been studied by neutron diffraction on single crystal. PrB6 orders at TN=6.9 K in an incommensurate double-k structure. At TIC= 3.9 K a lock-in transition leads to a...
ANTIFERROMAGNETIC ORDERING AND PHASE DIAGRAM OF YBa2Cu3O6+x (1988)
Rossat-Mignod, J., Burlet, P., Jurgens, M., Vettier, C., Regnault, L., Henry, J., ...
Neutron scattering experiments on single crystals have allowed an accurate determination of the magnetic phase diagram of YBa2Cu3O6+x. With increasing oxygen content the antiferromagnetic ordering of...
MAGNETIC AND ELECTRONIC PROPERTIES OF NEPTUNIUM AND PLUTONIUM COMPOUNDS (1988)
Burlet, P., Fournier, J., Pleska, E., Quezel, S., Rossat-Mignod, J., Spirlet, J., ...
The magnetic and electrical transport properties of the U, Np and Pu monopnictides and monochalcogenides are reviewed. The results of single crystal measurements on Np and Pu compounds are...
MÖSSBAUER AND NEUTRON DIFFRACTION STUDIES OF NpRu2Si2 (1988)
Bonnisseau, D., Burlet, P., Bogé, M., Quezel, S., Rossat-Mignod, J., Spirlet, J., ...
NpRu2Si2 has been studied by Mössbauer spectroscopy on powder samples and by neutron diffraction on a single crystal. Below TN=27.5 ± 0.5 K the magnetic ordering is incommensurate (k = [00k] , mk...
Kuznietz, M., Burlet, P., Rossat-Mignod, J., Vogt, O., Mattenberger, K., Bartholin, H.
The magnetic phase diagram (magnetic field versus temperature) of UAs0.75Se0.25 has been determined by neutron diffraction and magnetization of single crystals in magnetic fields up to 67.2 and 190...
A SINGLE CRYSTAL NEUTRON SCATTERING STUDY OF THE MAGNETIC ORDERING IN PRASEODIMIUM HEXABORIDE (1988)
Burlet, P., Effantin, J., Rossat-Mignod, J., Kunii, S., Kasuya, T.
The magnetic ordering in PrB6 has been studied by neutron diffraction on single crystal. PrB6 orders at TN=6.9 K in an incommensurate double-k structure. At TIC= 3.9 K a lock-in transition leads to a...
ANTIFERROMAGNETIC ORDERING AND PHASE DIAGRAM OF YBa2Cu3O6+x (1988)
Rossat-Mignod, J., Burlet, P., Jurgens, M., Vettier, C., Regnault, L., Henry, J., ...
Neutron scattering experiments on single crystals have allowed an accurate determination of the magnetic phase diagram of YBa2Cu3O6+x. With increasing oxygen content the antiferromagnetic ordering of...
MAGNETIC AND ELECTRONIC PROPERTIES OF NEPTUNIUM AND PLUTONIUM COMPOUNDS (1988)
Burlet, P., Fournier, J., Pleska, E., Quezel, S., Rossat-Mignod, J., Spirlet, J., ...
The magnetic and electrical transport properties of the U, Np and Pu monopnictides and monochalcogenides are reviewed. The results of single crystal measurements on Np and Pu compounds are...
MÖSSBAUER AND NEUTRON DIFFRACTION STUDIES OF NpRu2Si2 (1988)
Bonnisseau, D., Burlet, P., Bogé, M., Quezel, S., Rossat-Mignod, J., Spirlet, J., ...
NpRu2Si2 has been studied by Mössbauer spectroscopy on powder samples and by neutron diffraction on a single crystal. Below TN=27.5 ± 0.5 K the magnetic ordering is incommensurate (k = [00k] , mk...
Kuznietz, M., Burlet, P., Rossat-Mignod, J., Vogt, O., Mattenberger, K., Bartholin, H.
The magnetic phase diagram (magnetic field versus temperature) of UAs0.75Se0.25 has been determined by neutron diffraction and magnetization of single crystals in magnetic fields up to 67.2 and 190...
Neutron diffraction study of HoMo6S8 single crystal (1985)
Rossat-Mignod, J., Burlet, P., Quézel, S., Benoît, A., Flouquet, J., Horyn, R., ...
The first neutron diffraction results obtained on single crystals of HoMo 6S8 are reported. At temperatures below Tm = 0.65 K, HoMo6S8 develops a magnetic ordering of long period; the magnetic...
Neutron diffraction study of HoMo6S8 single crystal (1985)
Rossat-Mignod, J., Burlet, P., Quézel, S., Benoît, A., Flouquet, J., Horyn, R., ...
The first neutron diffraction results obtained on single crystals of HoMo 6S8 are reported. At temperatures below Tm = 0.65 K, HoMo6S8 develops a magnetic ordering of long period; the magnetic...
Neutron diffraction study of HoMo6S8 single crystal (1985)
Rossat-Mignod, J., Burlet, P., Quézel, S., Benoît, A., Flouquet, J., Horyn, R., ...
The first neutron diffraction results obtained on single crystals of HoMo 6S8 are reported. At temperatures below Tm = 0.65 K, HoMo6S8 develops a magnetic ordering of long period; the magnetic...
A high magnetic field and very low temperature cryomagnet for neutron scattering experiments (1984)
Rossat-Mignod, J., Olivier, J., Burlet, P., Regnault, L.P., Effantin, J.M., Gravil, B., ...
A cryomagnetic system is described in which the main components are a cryostat providing variable temperatures and a superconducting magnet The cryostat enables the magnet to operate either at 4.2 K...
A high magnetic field and very low temperature cryomagnet for neutron scattering experiments (1984)
Rossat-Mignod, J., Olivier, J., Burlet, P., Regnault, L.P., Effantin, J.M., Gravil, B., ...
A cryomagnetic system is described in which the main components are a cryostat providing variable temperatures and a superconducting magnet The cryostat enables the magnet to operate either at 4.2 K...
A high magnetic field and very low temperature cryomagnet for neutron scattering experiments (1984)
Rossat-Mignod, J., Olivier, J., Burlet, P., Regnault, L.P., Effantin, J.M., Gravil, B., ...
A cryomagnetic system is described in which the main components are a cryostat providing variable temperatures and a superconducting magnet The cryostat enables the magnet to operate either at 4.2 K...
MAGNETIC FORM FACTOR MEASUREMENTS IN CERIUM HEXABORIDE (1982)
Burlet, P., Boucherle, J., Rossat-Mignod, J., Cable, J., Koehler, W., Kunii, S., ...
The results of a polarized neutron study of the magnetic form factor of Ce3+ ions in CeB6 are described. This form factor does not show the anisotropy characteristic of a Γ7 doublet, so the...
MAGNETIC FORM FACTOR MEASUREMENTS IN CERIUM HEXABORIDE (1982)
Burlet, P., Boucherle, J., Rossat-Mignod, J., Cable, J., Koehler, W., Kunii, S., ...
The results of a polarized neutron study of the magnetic form factor of Ce3+ ions in CeB6 are described. This form factor does not show the anisotropy characteristic of a Γ7 doublet, so the...
MAGNETIC FORM FACTOR MEASUREMENTS IN CERIUM HEXABORIDE (1982)
Burlet, P., Boucherle, J., Rossat-Mignod, J., Cable, J., Koehler, W., Kunii, S., ...
The results of a polarized neutron study of the magnetic form factor of Ce3+ ions in CeB6 are described. This form factor does not show the anisotropy characteristic of a Γ7 doublet, so the...
Magnetic properties of cerium monotelluride (1980)
Ravot, D., Burlet, P., Rossat-Mignod, J., Tholence, J.L.
Magnetization, magnetic susceptibility and neutron scattering measurements have been performed on CeTe single crystals, in order to study the low temperature magnetic properties. We observe at T < 2...
Magnetic properties of cerium monotelluride (1980)
Ravot, D., Burlet, P., Rossat-Mignod, J., Tholence, J.L.
Magnetization, magnetic susceptibility and neutron scattering measurements have been performed on CeTe single crystals, in order to study the low temperature magnetic properties. We observe at T < 2...
Magnetic properties of cerium monotelluride (1980)
Ravot, D., Burlet, P., Rossat-Mignod, J., Tholence, J.L.
Magnetization, magnetic susceptibility and neutron scattering measurements have been performed on CeTe single crystals, in order to study the low temperature magnetic properties. We observe at T < 2...
Hydrostatic pressure effects and neutron diffraction studies of CeBi phase diagram (1979)
Bartholin, H., Burlet, P., Quezel, S., Rossat-Mignod, J., Vogt, O.
The phase diagram of CeBi for a magnetic field applied along a 〈 100 〉 axis has been determined by magnetization experiments and neutron diffraction scattering. Some of the seven observed...
Magnetic phase diagram of CeSb for a field applied along a < 111 > direction (1979)
Burlet, P., Rossat-Mignod, J., Bartholin, H., Vogt, O.
The magnetic phase diagram of CeSb for a magnetic field applied along a < 111 > direction has been determined by means of magnetization and neutron diffraction experiments. The results confirm those...
Magnetic structure of cobalt formate dihydrate : a single crystal determination (1979)
Burlet, P., Rossat-Mignod, J., Matsuura, M.
An unpolarized neutron diffraction study of a single crystal of cobalt formate Co(COOH)2 2 H2O indicates that the magnetic structure is described by an antiferromagnetic mode Axz for both the A and B...
Rossat-Mignod, J., Burlet, P., Vogt, O., Lander, G.
Magnetization and neutron diffraction studies of USb0.9Te0,1 single crystal lead to the determination of a multiaxial magnetic structure at low temperature whereas an incommensurate state is observed...
Hydrostatic pressure effects and neutron diffraction studies of CeBi phase diagram (1979)
Bartholin, H., Burlet, P., Quezel, S., Rossat-Mignod, J., Vogt, O.
The phase diagram of CeBi for a magnetic field applied along a 〈 100 〉 axis has been determined by magnetization experiments and neutron diffraction scattering. Some of the seven observed...
Magnetic phase diagram of CeSb for a field applied along a < 111 > direction (1979)
Burlet, P., Rossat-Mignod, J., Bartholin, H., Vogt, O.
The magnetic phase diagram of CeSb for a magnetic field applied along a < 111 > direction has been determined by means of magnetization and neutron diffraction experiments. The results confirm those...
Magnetic structure of cobalt formate dihydrate : a single crystal determination (1979)
Burlet, P., Rossat-Mignod, J., Matsuura, M.
An unpolarized neutron diffraction study of a single crystal of cobalt formate Co(COOH)2 2 H2O indicates that the magnetic structure is described by an antiferromagnetic mode Axz for both the A and B...
Rossat-Mignod, J., Burlet, P., Vogt, O., Lander, G.
Magnetization and neutron diffraction studies of USb0.9Te0,1 single crystal lead to the determination of a multiaxial magnetic structure at low temperature whereas an incommensurate state is observed...
Hydrostatic pressure effects and neutron diffraction studies of CeBi phase diagram (1979)
Bartholin, H., Burlet, P., Quezel, S., Rossat-Mignod, J., Vogt, O.
The phase diagram of CeBi for a magnetic field applied along a 〈 100 〉 axis has been determined by magnetization experiments and neutron diffraction scattering. Some of the seven observed...
Magnetic phase diagram of CeSb for a field applied along a < 111 > direction (1979)
Burlet, P., Rossat-Mignod, J., Bartholin, H., Vogt, O.
The magnetic phase diagram of CeSb for a magnetic field applied along a < 111 > direction has been determined by means of magnetization and neutron diffraction experiments. The results confirm those...
Magnetic structure of cobalt formate dihydrate : a single crystal determination (1979)
Burlet, P., Rossat-Mignod, J., Matsuura, M.
An unpolarized neutron diffraction study of a single crystal of cobalt formate Co(COOH)2 2 H2O indicates that the magnetic structure is described by an antiferromagnetic mode Axz for both the A and B...
Rossat-Mignod, J., Burlet, P., Vogt, O., Lander, G.
Magnetization and neutron diffraction studies of USb0.9Te0,1 single crystal lead to the determination of a multiaxial magnetic structure at low temperature whereas an incommensurate state is observed...
The measurements of susceptibility, specific heat, Mössbauer effect and neutron diffraction performed on the quasi one-dimensional insulators FeMgBO4 and FeMg2BO5 have shown a magnetic behaviour of...
The measurements of susceptibility, specific heat, Mössbauer effect and neutron diffraction performed on the quasi one-dimensional insulators FeMgBO4 and FeMg2BO5 have shown a magnetic behaviour of...
The measurements of susceptibility, specific heat, Mössbauer effect and neutron diffraction performed on the quasi one-dimensional insulators FeMgBO4 and FeMg2BO5 have shown a magnetic behaviour of...
Do-Dinh, C., Chevalier, R., Burlet, P., Bertaut, E.F.
L'étude par effet Mössbauer et diffraction neutronique du système Ba(Fe xAl1-x)2O4 suggère l'existence d'une concentration critique xc ≃ 0,40 telle que : Pour x < xc, il ne peut y avoir...
Do-Dinh, C., Chevalier, R., Burlet, P., Bertaut, E.F.
L'étude par effet Mössbauer et diffraction neutronique du système Ba(Fe xAl1-x)2O4 suggère l'existence d'une concentration critique xc ≃ 0,40 telle que : Pour x < xc, il ne peut y avoir...
Do-Dinh, C., Chevalier, R., Burlet, P., Bertaut, E.F.
L'étude par effet Mössbauer et diffraction neutronique du système Ba(Fe xAl1-x)2O4 suggère l'existence d'une concentration critique xc ≃ 0,40 telle que : Pour x < xc, il ne peut y avoir...
A PstI polymorphism at the D5S39 locus
Abdelhak, S., Melki, J., Bachelot, M.F., Burlet, P., Sheth, P., Frézal, J., ...
Bürglen, L, Amiel, J, Viollet, L, Lefebvre, S, Burlet, P, Clermont, O, ...
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene...
Müller, B, Melki, J, Burlet, P, Clerget-Darpoux, F
Proximal spinal muscular atrophy (SMA) is a group of progressive muscular diseases recently mapped to chromosome 5q. SMA is usually classified into types I-III, and there are cases of two types of...
Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5
Sheth, P., Abdelhak, S., Bachelot, M. F., Burlet, P., Masset, M., Hillaire, D., ...
The proximal spinal muscular atrophies (SMA) represent the second most common autosomal recessive disorder, after cystic fibrosis. The gene responsible for chronic SMA has recently been mapped to...
A PstI polymorphism at the D5S39 locus
Abdelhak, S., Melki, J., Bachelot, M.F., Burlet, P., Sheth, P., Frézal, J., ...
Bürglen, L, Amiel, J, Viollet, L, Lefebvre, S, Burlet, P, Clermont, O, ...
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene...
Müller, B, Melki, J, Burlet, P, Clerget-Darpoux, F
Proximal spinal muscular atrophy (SMA) is a group of progressive muscular diseases recently mapped to chromosome 5q. SMA is usually classified into types I-III, and there are cases of two types of...
Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5
Sheth, P., Abdelhak, S., Bachelot, M. F., Burlet, P., Masset, M., Hillaire, D., ...
The proximal spinal muscular atrophies (SMA) represent the second most common autosomal recessive disorder, after cystic fibrosis. The gene responsible for chronic SMA has recently been mapped to...
Bürglen, L, Seroz, T, Miniou, P, Lefebvre, S, Burlet, P, Munnich, A, ...
Mutations of the survival motor neurone gene (SMN) are associated with spinal muscular atrophy (SMA), a frequent lethal autosomal recessive disorder. In spite of this, no phenotype-genotype...
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
Melki, J, Abdelhak, S, Burlet, P, Raclin, V, Kaplan, J, Spiegel, R, ...
Werdnig-Hoffmann disease is a common autosomal recessive neuromuscular disorder that results in paralysis and death. No treatment to prevent this disease or to alter its unremitting course has been...
Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
Burlet, P, Bürglen, L, Clermont, O, Lefebvre, S, Viollet, L, Munnich, A, ...
Spinal muscular atrophy (SMA) is characterised by degeneration of anterior horn cells of the spinal cord and represents the second most common, lethal, autosomal recessive disorder after cystic...