Human chromosome 22.
J C Kaplan, A Aurias, C Julier, M Prieur, and M F Szajnert
J Med Genet 1987; 24: 65-78. doi:10.1136/jmg.24.2.65
[Abstract]
[PDF]
[Request Permissions]
Thrombocytopenia and absent radius (TAR) syndrome.
J G Hall
J Med Genet 1987; 24: 79-83. doi:10.1136/jmg.24.2.79
[PDF]
[Request Permissions]
Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease.
D Donnai, L Kerzin-Storrar, and R Harris
J Med Genet 1987; 24: 84-87. doi:10.1136/jmg.24.2.84
[Abstract]
[PDF]
[Request Permissions]
Confirmation of a suspected 16q deletion in a dysmorphic child by flow karyotype analysis.
A Cooke, J Tolmie, W Darlington, E Boyd, R Thomson, and M A Ferguson-Smith
J Med Genet 1987; 24: 88-92. doi:10.1136/jmg.24.2.88
[Abstract]
[PDF]
[Request Permissions]
New assignment of the adenosine deaminase gene locus to chromosome 20q13 X 11 by study of a patient with interstitial deletion 20q.
M B Petersen, L Tranebjaerg, N Tommerup, P Nygaard, and H Edwards
J Med Genet 1987; 24: 93-96. doi:10.1136/jmg.24.2.93
[Abstract]
[PDF]
[Request Permissions]
Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis.
C Rosatelli, G B Leoni, T Tuveri, M T Scalas, A Di Tucci, and A Cao
J Med Genet 1987; 24: 97-100. doi:10.1136/jmg.24.2.97
[Abstract]
[PDF]
[Request Permissions]
Ring XY bivalent: a new phenomenon at metaphase I of meiosis in man.
A C Chandley, T B Hargreave, S McBeath, A R Mitchell, and R M Speed
J Med Genet 1987; 24: 101-106. doi:10.1136/jmg.24.2.101
[Abstract]
[PDF]
[Request Permissions]
Frontonasal dysplasia associated with tetralogy of Fallot.
M M De Moor, R Baruch, and D G Human
J Med Genet 1987; 24: 107-109. doi:10.1136/jmg.24.2.107
[Abstract]
[PDF]
[Request Permissions]
Direct detection of haemoglobin E with MnlI.
S L Thein, J R Lynch, J M Old, and D J Weatherall
J Med Genet 1987; 24: 110-111. doi:10.1136/jmg.24.2.110
[PDF]
[Request Permissions]
Translocation chromosome map of oncogenes.
R Cruz-Coke
J Med Genet 1987; 24: 111-112. doi:10.1136/jmg.24.2.111
[PDF]
[Request Permissions]
An improved lymphocyte culture technique: deoxycytidine release of a thymidine block and use of a constant humidity chamber for slide making.
R F Wheater and S H Roberts
J Med Genet 1987; 24: 113-114. doi:10.1136/jmg.24.2.113
[PDF]
[Request Permissions]
G and R banding of 11p deletions in aniridia--Wilms' tumour.
R T Howell, A Gardner, and V Dickinson
J Med Genet 1987; 24: 114-115. doi:10.1136/jmg.24.2.114
[PDF]
[Request Permissions]
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum.
A A Connacher, C C Forsyth, and W K Stewart
J Med Genet 1987; 24: 116-118. doi:10.1136/jmg.24.2.116
[Abstract]
[PDF]
[Request Permissions]
An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.
M A Patton, M Baraitser, A H Heagerty, and R A Eady
J Med Genet 1987; 24: 118-122. doi:10.1136/jmg.24.2.118
[Abstract]
[PDF]
[Request Permissions]