J. Antich

发表

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.

M. Vidal, J. Arumí, E. Geán, 1995, Ophthalmic genetics.

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences.

B. Horsthemke, E. Passarge, G. Senger, 1990, Genomics.

Hallux valgus inheritance: pedigree research in 350 patients with bunion deformity.

J. Antich, Carlos Piqué-Vidal, M. T. Solé, 2007, The Journal of foot and ankle surgery : official publication of the American College of Foot and Ankle Surgeons.

New mutation in the 3′‐acceptor splice site of intron 4 in the rhodopsin gene associated with autosomal dominant retinitis pigmentosa in a Basque family

M. Carballo, R. Martin, A. I. Alvarez, 1996, Human mutation.

Schinzel-Giedion syndrome: report of two sibs.

V. Cusí, X. Krauel, R. Manzanares, 1995, American journal of medical genetics.

C autosomal trisomy with mosaicism.

J. Sabater, J. Antich, 2008, Journal of mental deficiency research.

Limb body wall complex: analysis of eight fetuses.

V. Cusí, M. Torrents, J. Carrera, 1996, Birth defects original article series.

DE NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME 2 IN A MALFORMED NEWBORN WITH A KARYOTYPE: 46, XY, del(2)(q12q14)

X. Carbonell, N. Clusellas, J. Antich, 1983, Acta paediatrica Scandinavica.

Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome?

V. Cusí, M. Iriondo, R. Manzanares, 1993, Genetic counseling.

Deletion of short arm of chromosome 18 with normal levels of IgA.

J. Sabater, J. Antich, J. Pérez del Pulgar, 2008, Journal of mental deficiency research.

Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa

C. Ayuso, C. Ramos, E. Geán, 1994, Human Genetics.

Cri-du-chat with chromosomal mosaicism.

M. Ribas-Mundó, J. Antich, J. Prats, 1968, Lancet.

A missense mutation (211His-->Arg) and a silent (160Thr) mutation within the rhodopsin gene in a spanish autosomal dominant retinitis pigmentosa family.

J. Reventós, E. Geán, M. Carballo, 1994, Human molecular genetics.

XO-XX-XXX mosaicism with Turner stigmata.

J. Antich, M. Mundó, J. Prats, 1967, Lancet.