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Embryonic expression of the human MID 1 gene and its mutations in Opitz syndrome

Article Abstract:

Opitz syndrome is a midline congenital malformation characterized by hypertelorism, hypospadias and oesophagolaryngotracheal defects, which leads to swallowing difficulties and hoarse voice. The role of MID 1 during embryonic development is investigated through expression studies.

Author: Munnich, A., Meroni, G., Lyonnet, S., Vekemans, M., Attie. Bitach, T., Pinson, L., Auge, J., Audollent, S., Mattei, G., Etchevers, H., Gigarel, N., Razavi, F., Lacombe, D., Odent, S., M Le Merrer, Amiel, J.
Publisher: British Medical Association
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
Analysis, Genetic aspects, Genetic research, Genes, Throat diseases, Pharyngeal diseases

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Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

Article Abstract:

A study was conducted on the break points of a de novo translocation t(X;9)(p11.23;q34.3) in a mentally retarded female, which disrupted the gene ZNF81 on the X chromosome. The studies suggested that ZNF81 was causative for non-specific X-lined mental retardation.

Author: Kleefstra, T., Oudakker, A.R., Yntema, H.G., Banning, M.J.G., Chelly, J., Kalscheuer, V.M., Moraine, C., Janssen, I.M., Fryns, J-P., Roper, H-H., Sistermans, E.A., Vries L B A de., Nillesen, W.N., Hamel, B.C.J., Bokhoven, H van.
Publisher: British Medical Association
Publication Name: Journal of Medical Genetics
Subject: Health
ISSN: 0022-2593
Year: 2004
Gene mutations, Gene mutation, Mental retardation, X chromosome

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Subjects list: Research
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