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Items: 1 to 20 of 88

1.

Familial recurrence of achondroplasia.

Fitzsimmons JS.

Am J Med Genet. 1985 Nov;22(3):609-13.

PMID:
4061493
2.

Achondroplasia in two first cousins.

Siggers DC.

Birth Defects Orig Artic Ser. 1974;10(12):358-9. No abstract available.

PMID:
4461067
3.

Achondroplasia: unexpected familial recurrence.

Reiser CA, Pauli RM, Hall JG.

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

PMID:
6507475
4.

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
5.

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

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

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

PMID:
3419874
6.
7.

[A dominant form of pseudoachondroplastic dysplasia. A familial case (author's transl)].

Fontaine G, Gourguechon A, Smith M.

Presse Med. 1979 Dec 10;8(48):3961-3. French.

PMID:
530947
8.

Achondroplasia in sibs of normal parents.

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

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

9.

Achondroplasia in two sisters with normal parents.

Bowen P.

Birth Defects Orig Artic Ser. 1974;10(12):31-6. No abstract available.

PMID:
4461062
10.

The severe recessive form of pseudoachondroplastic dysplasia.

Dennis NR, Renton P.

Pediatr Radiol. 1975 Jun 13;3(3):169-75.

PMID:
1233433
11.

[Pseudoachondrodysplasia (pseudoachondroplastic spondyloepiphyseal dysplasia). Description of 2 non-familial cases].

Giordano F, Corso D, Basile G, Noto D, Orsi E, Chiappara GM, Camera G.

Pathologica. 1989 Nov-Dec;81(1076):627-34. Italian.

PMID:
2635292
12.

Severe pseudoachondroplasia with parental consanguinity.

Young ID, Moore JR.

J Med Genet. 1985 Apr;22(2):150-3.

13.

Achondroplasia: clinical radiologic features with comment on genetic implications.

Langer LO Jr, Baumann PA, Gorlin RJ.

Clin Pediatr (Phila). 1968 Aug;7(8):474-85. No abstract available.

PMID:
5668010
14.

Do parents and grandparents of patients with achondroplasia have a higher cancer risk?

Stoll C, Feingold J.

Am J Med Genet A. 2004 Oct 1;130A(2):165-8.

PMID:
15372518
15.

Frequency of the appearance of the dominant mutation of achondroplasia in man. Communication I. Ratio of sporadic and familial cases.

Lunga IN, Meerson EM, Moin ML.

Sov Genet. 1974 Nov 15;9(1):109-11. No abstract available.

PMID:
4453852
16.

[Achondroplasia and Down syndrome in the same patient. Report of a case].

Sánchez O, Guerra D, Nastasi J, Escalona J.

Invest Clin. 1999 Jun;40(2):143-54. Review. Spanish.

PMID:
10390952
17.

[Dysplasia epiphysialis punctata caused by failure of proliferatin cartilage: achondroplasia and hypochondroplasia].

Delgado A, Gonzalez E, Imizcoz FL, Bueno M, San Julian M.

Rev Med Univ Navarra. 1971 Jun;15(2):101-16. Spanish. No abstract available.

PMID:
5162172
18.

[Dysplasia epiphysialis punctata caused by failure of proliferating cartilage: achondroplasia and hypochondroplasia].

Delgado A, González E, Imízcoz FL, San Julián M, Bueno M.

Rev Med Univ Navarra. 1972 Jun;15(2):101-16. Spanish. No abstract available.

PMID:
5048535
19.

A gene for achondroplasia-hypochondroplasia maps to chromosome 4p.

Le Merrer M, Rousseau F, Legeai-Mallet L, Landais JC, Pelet A, Bonaventure J, Sanak M, Weissenbach J, Stoll C, Munnich A, et al.

Nat Genet. 1994 Mar;6(3):318-21.

PMID:
8012398
20.

[Manifestations of achondroplasia in a family, description of the family tree and anthropometric studies].

Miljković D, Andonov V.

Srp Arh Celok Lek. 1988 Apr;116(4):341-6. Serbian. No abstract available.

PMID:
3187760
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