Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?

Por Mattei, J F, Aymé, S
Publicado em 1983

Blepharophimosis-mental retardation syndrome and terminal deletion of chromosome 3p.

Por Moncla, A, Philip, N, Mattei, J F
Publicado em 1995

HLA and trisomy 21. Confirmation of a trend of restricted HLA heterogeneity in parents of Down syndrome children.

Por Aymé, S, Mercier, P, Dallest, R, Mattei, J F
Publicado em 1984

Maternal age and origin of non-disjunction in trisomy 21.

Por Mattei, J F, Ayme, S, Mattei, M G, Giraud, F
Publicado em 1980

Achondroplasia in sibs of normal parents.

Por Philip, N, Auger, M, Mattei, J F, Giraud, F
Publicado em 1988

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.

Por Mattei, J F, Mattei, M G, Coignet, J, Giraud, F
Publicado em 1978

Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

Por Aymé, S, Pelissier, J F, Garnier, J M, Mattei, J F, Giraud, F
Publicado em 1979

Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3.

Por Patterson, M, Kenwrick, S, Thibodeau, S, Faulk, K, Mattei, M G, Mattei, J F, Davies, K E
Publicado em 1987

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Por Moncla, A, Livet, M O, Auger, M, Mattei, J F, Mattei, M G, Giraud, F
Publicado em 1991

Large scale physical mapping in the q27 region of the human X chromosome: the coagulation factor IX gene and the mcf.2 transforming sequence are separated by at most 270 kilobase p...

Por Nguyen, C, Pontarotti, P, Birnbaum, D, Chimini, G, Rey, J A, Mattei, J F, Jordan, B R
Publicado em 1987

The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Por Saugier-Veber, P, Abadie, V, Moncla, A, Mathieu, M, Piussan, C, Turleau, C, Mattei, J F, Munnich, A, Lyonnet, S
Publicado em 1993

Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.

Por Rahmani, Z, Blouin, J L, Creau-Goldberg, N, Watkins, P C, Mattei, J F, Poissonnier, M, Prieur, M, Chettouh, Z, Nicole, A, Aurias, A
Publicado em 1989

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers.

Por Oberlé, I, Heilig, R, Moisan, J P, Kloepfer, C, Mattéi, G M, Mattéi, J F, Boué, J, Froster-Iskenius, U, Jacobs, P A, Lathrop, G M
Publicado em 1986

Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: Application to chromosome 21

Por Blouin, J. L., Rahmani, Z., Chettouh, Z., Prieur, M., Fermanian, J., Poissonnier, M., Leonard, C., Nicole, A., Mattei, J. F., Sinet, P. M., Delabar, J. M.
Publicado em 1990