Volume 29; Issue 4

Journal of Medical Genetics

Volume 29; Issue 4

1

Evidence that Rieger syndrome maps to 4q25 or 4q27.

Vaux, C, Sheffield, L, Keith, C G, Voullaire, L

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 855 KB

english, 1992

2

Sex reversal in a child with a 46,X,Yp+ karyotype: support for the existence of a gene(s), located in distal Xp, involved in testis formation.

Ogata, T, Hawkins, J R, Taylor, A, Matsuo, N, Hata, J, Goodfellow, P N

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.31 MB

english, 1992

3

Medical genetics: advances in brief: Homology of a candidate spermatogenic gene from the mouse Y chromosome to the ubiquitin-activating enzyme E1

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 259 KB

english, 1992

4

Medical genetics: advances in brief: Nucleoside triphosphates are required to open the CFTR chloride channel

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 259 KB

english, 1992

5

Medical genetics: advances in brief: Early bacteriologic, immunologic and clinical courses of young infants with cystic fibrosis identified by neonatal screening

Fitzpatrick, D.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 259 KB

english, 1992

6

Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?

Zerres, K, Rietschel, M, Rietschel, E, Majewski, F, Meinecke, P

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 929 KB

english, 1992

7

A strategy for the rapid isolation of new PCR based DNA polymorphisms.

Hoban, P R, Santibanez-Koref, M F, Heighway, J

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 334 KB

english, 1992

8

Highly polymorphic XbaI RFLPs of the human 21-hydroxylase genes among Chinese.

Chen, L, Pan, X, Shen, Y, Chen, Z, Zhang, Y, Chen, R

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 383 KB

english, 1992

9

Medical genetics: advances in brief: Effectiveness of routine ultrasonography in detecting fetal structural abnormalities in a low risk population

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 259 KB

english, 1992

10

Chromosome Anomalies and Prenatal Development: An Atlas

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 210 KB

english, 1992

11

Beckwith-Wiedemann syndrome: a demonstration of the mechanisms responsible for the excess of transmitting females.

Moutou, C, Junien, C, Henry, I, Bonaiti-Pellie, C

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 623 KB

english, 1992

12

Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13.

Young, R P, Sharp, P A, Lynch, J R, Faux, J A, Lathrop, G M, Cookson, W O, Hopkin, J M

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 491 KB

english, 1992

13

Genatlas

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 223 KB

english, 1992

14

Hypoglossia-hypodactyly syndrome with hydrocephalus.

Lipson, A H, Weaver, D D

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 264 KB

english, 1992

15

The orocraniodigital syndrome of Juberg and Hayward.

Verloes, A, Le Merrer, M, Davin, J C, Wittamer, P, Abrassart, C, Bricteux, G, Briard, M L

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 1.47 MB

english, 1992

16

Screening of microdeletions of chromosome 20 in patients with Alagille syndrome.

Desmaze, C, Deleuze, J F, Dutrillaux, A M, Thomas, G, Hadchouel, M, Aurias, A

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 621 KB

english, 1992

17

Evidence for paternal imprinting in familial Beckwith-Wiedemann syndrome.

Viljoen, D, Ramesar, R

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 982 KB

english, 1992

18

Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.

Pound, S E, Carothers, A D, Pignatelli, P M, Macnicol, A M, Watson, M L, Wright, A F

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 361 KB

english, 1992

19

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

Young, I D, Zuccollo, J M, Maltby, E L, Broderick, N J

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 752 KB

english, 1992

20

A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33----q35.1.

Tupler, R, Maraschio, P, Gerardo, A, Mainieri, R, Lanzi, G, Tiepolo, L

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 593 KB

english, 1992

21

Interstitial deletion of the distal long arm of chromosome 4.

Sarda, P, Lefort, G, Fryns, J P, Humeau, C, Rieu, D

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 591 KB

english, 1992

22

The Baller-Gerold syndrome.

Van Maldergem, L, Verloes, A, Lejeune, L, Gillerot, Y

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 945 KB

english, 1992

23

Abstracts of the Joint British Medical Genetics meeting organised by the Clinical Genetics Society and the Clinical Molecular Genetics Society held on 19 and 20 September 1991 at the University of Bristol

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 3.63 MB

english, 1992

24

Age at onset and life table risks in genetic counselling for Huntington's disease.

Harper, P S, Newcombe, R G

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 600 KB

english, 1992

25

Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1).

Coto, E, Aguado, S, Alvarez, J, Menendez Diaz, M J, Lopez-Larrea, C

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 594 KB

english, 1992

26

Medical genetics: advances in brief: Molecular analysis of X linked agammaglobulinemia with growth hormone deficiency

Fitzpatrick, D.

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 259 KB

english, 1992

27

Fragile X syndrome: as common as first thought?

Journal:

Journal of Medical Genetics

Year:

1992

Language:

english

File:

PDF, 277 KB

english, 1992