Mild phenotypes in a series of patients with opitz GBBB syndrome with MID1 mutations (2005)
So, J., Suckow, V., Kijas, Z., Kalscheuer, V. M., Moser, B., Winter, J., ...
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations (2005)
So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., ...
Opitz syndrome (OS; MIM 1454 10 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE)...
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations (2005)
So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., ...
Opitz syndrome (OS; MIM 1454 10 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE)...
Mutations in CDMP1 cause autosomal dominant brachydactyly type C (1997)
Warman, M.L., Luyten, F.P., Donnai, D., McGaughran, J., Chitayat, D., Burgt, I. Van Der, ...
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., ...
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete...
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
Devriendt, K, Matthijs, G, Van Dael, R, Gewillig, M, Eyskens, B, Hjalgrim, H, ...
Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental...
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
Goodman, F. R., Mundlos, S., Muragaki, Y., Donnai, D., Giovannucci-Uzielli, M. L., Lapi, E., ...
Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete...
Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.
Devriendt, K, Matthijs, G, Van Dael, R, Gewillig, M, Eyskens, B, Hjalgrim, H, ...
Deletions in the distal region of chromosome 8p (del8p) are associated with congenital heart malformations. Other major manifestations include microcephaly, intrauterine growth retardation, mental...
A clinical study of type 1 neurofibromatosis in north west England
McGaughran, J, Harris, D, Donnai, D, Teare, D, MacLeod, R, Westerbeek, R, ...
A clinical study of patients on the North West Regional Genetic Register with neurofibromatosis type 1 (NF1) identified 523 affected cases from 304 families. In those for whom relevant information...
Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification
Hegde, M., Chong, B., Fawkner, M., Lambiris, N., Peters, H., Kenneson, A., ...
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
Evans, D, Baser, M, McGaughran, J, Sharif, S, Howard, E, Moran, A
Background: Cross sectional studies have shown that 1-2% of patients with neurofibromatosis 1 (NF1) develop malignant peripheral nerve sheath tumours (MPNST). However, no population based...
Molecular diagnosis of spinal muscular atrophy
Stewart, H, Wallace, A, McGaughran, J, Mountford, R, Kingston, H
The frequency of deletions within the survival motor neurone (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes in patients with spinal muscular atrophy (SMA), and the impact of this on the...
Audiological abnormalities in the Klippel-Feil syndrome
McGaughran, J, Kuna, P, Das, V
Klippel-Feil syndrome (KFS) is defined as a short neck with decreased movement and low posterior hairline. Radiologically, there is a failure of cervical segmentation. Deafness is a well known...