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Items: 1 to 20 of 73

1.

"Unstable premutation" in achondroplasia: penetrance vs phenotrance.

Opitz JM.

Am J Med Genet. 1984 Oct;19(2):251-4. No abstract available.

PMID:
6507476
2.

Achondroplasia in sibs of normal parents.

Philip N, Auger M, Mattei JF, Giraud F.

J Med Genet. 1988 Dec;25(12):857-9.

3.

Genetic counselling in unexpected familial recurrence of achondroplasia.

Dodinval P, Le Marec B.

Am J Med Genet. 1987 Dec;28(4):949-54.

PMID:
3688033
4.

Clinical aspects of gene expression.

Herrmann J.

Birth Defects Orig Artic Ser. 1977;13(3D):25-45.

PMID:
200293
5.

Premutation in achondroplasia.

Opitz JM.

Basic Life Sci. 1988;48:17-25. No abstract available.

PMID:
3240248
6.

Achondroplasia: unexpected familial recurrence.

Reiser CA, Pauli RM, Hall JG.

Am J Med Genet. 1984 Oct;19(2):245-50.

PMID:
6507475
7.

[Genetic study of achondroplasia].

Bouvet JP, Maroteaux P, Feingold J.

Ann Genet. 1971 Jun;14(2):127-31. French. No abstract available.

PMID:
5314799
8.

Molecular genetic studies in achondroplasia.

Francomano CA, Le PL, Pyeritz RE.

Basic Life Sci. 1988;48:53-8. No abstract available.

PMID:
2907290
9.

Case report of achondroplasia.

Jenkins DM, Riley JE.

Am J Obstet Gynecol. 1972 Aug 15;113(8):1135-7. No abstract available.

PMID:
4635185
10.

The gene for achondroplasia maps to the telomeric region of chromosome 4p.

Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI Jr, Gusella JF, Tsipouras P.

Nat Genet. 1994 Mar;6(3):314-7.

PMID:
8012397
11.

[Pseudo-achondroplasia: study of a familial case].

Vandevelde MF, Boez E, Chauviére A, Farriaux JP.

Pediatrie. 1988;43(4):319-23. French.

PMID:
3419874
12.

A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P.

Am J Med Genet. 1995 Jan 2;55(1):127-33.

PMID:
7702086
13.
14.
15.

Probable case of achondroplasia-hypochondroplasia compound.

Kelly TE.

Birth Defects Orig Artic Ser. 1974;10(12):360-1. No abstract available.

PMID:
4461068
16.

Achondroplasia and pregnancy.

Roopnarinesingh S, Naraynsingh V, Woo J.

West Indian Med J. 1983 Jun;32(2):112-3. No abstract available.

PMID:
6613102
17.

Possible genetic heterogeneity in hypochondroplasia.

Stoilov I, Kilpatrick MW, Tsipouras P, Costa T.

J Med Genet. 1995 Jun;32(6):492-3. No abstract available.

18.

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al.

Hum Mol Genet. 1994 May;3(5):787-92.

PMID:
8081365
19.

Severe achondroplasia: demonstration of probable heterogeneity within this clinical syndrome.

Wallace DC, Exton LA, Pritchard DA, Leung Y, Cooke RA.

J Med Genet. 1970 Mar;7(1):22-6. No abstract available.

20.

Homozygous achondroplasia with survival beyond infancy.

Pauli RM, Conroy MM, Langer LO Jr, McLone DG, Naidich T, Franciosi R, Ratner IM, Copps SC.

Am J Med Genet. 1983 Dec;16(4):459-73.

PMID:
6660245

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