Volume 34; Issue 3

Journal of Medical Genetics

Volume 34; Issue 3

1

Hereditary spinal neurofibromatosis: a rare form of NF1?

Poyhonen, M, Leisti, E L, Kytola, S, Leisti, J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 831 KB

english, 1997

2

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Rubinsztein, J S, Rubinsztein, D C, McKenna, P J, Goodburn, S, Holland, A J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 993 KB

english, 1997

3

Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

Mignon, C, Parente, F, Stavropoulou, C, Collignon, P, Moncla, A, Turc-Carel, C, Mattei, M G

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.52 MB

english, 1997

4

Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.

Wallerstein, R, Anderson, C E, Hay, B, Gupta, P, Gibas, L, Ansari, K, Cowchock, F S, Weinblatt, V, Reid, C, Levitas, A, Jackson, L

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 672 KB

english, 1997

5

Tuberous sclerosis complex: neonatal deaths in three of four children of consanguineous, non-expressing parents.

Ruggieri, M, Carbonara, C, Magro, G, Migone, N, Grasso, S, Tine, A, Pavone, L, Gomez, M R

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.71 MB

english, 1997

6

De novo der(X)t(X;10)(q26;q21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR).

Garcia-Heras, J, Martin, J A, Witchel, S F, Scacheri, P

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 793 KB

english, 1997

7

Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.

Slee, J, Goldblatt, J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 895 KB

english, 1997

8

A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity.

Tupler, R, Marseglia, G L, Stefanini, M, Prosperi, E, Chessa, L, Nardo, T, Marchi, A, Maraschio, P

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.64 MB

english, 1997

9

Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.

Chen, C P, Shih, S L, Liu, F F, Jan, S W

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 812 KB

english, 1997

10

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.

Rubinsztein, D C, Leggo, J

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 442 KB

english, 1997

11

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

Willemsen, R, Los, F, Mohkamsing, S, van den Ouweland, A, Deelen, W, Galjaard, H, Oostra, B

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 479 KB

english, 1997

12

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus.

Crolla, J A, Cawdery, J E, Oley, C A, Young, I D, Gray, J, Fantes, J, van Heyningen, V

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.35 MB

english, 1997

13

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

Digilio, M C, Marino, B, Giannotti, A, Toscano, A, Dallapiccola, B

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 565 KB

english, 1997

14

Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene.

Holzmann, C, Saecker, A M, Epplen, J T, Riess, O

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 279 KB

english, 1997

15

Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.

Bobba, A, Iolascon, A, Giannattasio, S, Albrizio, M, Sinisi, A, Prisco, F, Schettini, F, Marra, E

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.11 MB

english, 1997

16

Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.

Flomen, R H, Gorman, P A, Vatcheva, R, Groet, J, Barisic, I, Ligutic, I, Sheer, D, Nizetic, D

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.10 MB

english, 1997

17

Genetic counselling: the psychological impact of meeting patients' expectations.

Michie, S, Marteau, T M, Bobrow, M

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 944 KB

english, 1997

18

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.

Narahara, K, Baker, E, Ito, S, Yokoyama, Y, Yu, S, Hewitt, D, Sutherland, G R, Eccles, M R, Richards, R I

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.04 MB

english, 1997

19

Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old child.

Dean, J, Cohen, G, Kemp, J, Robson, L, Tembe, V, Hasselaar, J, Webster, B, Lammi, A, Smith, A

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 967 KB

english, 1997

20

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

des Portes, V, Pinard, J M, Smadja, D, Motte, J, Boespflug-Tanguy, O, Moutard, M L, Desguerre, I, Billuart, P, Carrie, A, Bienvenu, T, Vinet, M C, Bachner, L, Beldjord, C, Dulac, O, Kahn, A, Ponsot, G

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 1.58 MB

english, 1997