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Results: 19

1.

Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.

Maroteaux P.

Hum Genet. 1989 May;82(2):167-70.

PMID:
2722194
[PubMed - indexed for MEDLINE]
2.

Brachytelephalangic chondrodysplasia punctata.

Bieganski T, Kozlowski K.

Australas Radiol. 1998 Aug;42(3):244-5. Review.

PMID:
9727255
[PubMed - indexed for MEDLINE]
3.

Chondrodysplasia punctata: case report and review of audiological and ENT features.

Murdin L, Sirimanna T, Hartley BE, Holder SE.

J Laryngol Otol. 2006 Mar;120(3):233-6. Epub 2005 Nov 25. Review.

PMID:
16359148
[PubMed - indexed for MEDLINE]
4.

Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.

Wulfsberg EA, Curtis J, Jayne CH.

Am J Med Genet. 1992 Jul 15;43(5):823-8. Review.

PMID:
1642270
[PubMed - indexed for MEDLINE]
5.

[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].

Omobono E, Goetsch W.

Minerva Pediatr. 1993 Mar;45(3):117-21. Review. Italian.

PMID:
8341225
[PubMed - indexed for MEDLINE]
6.

Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata.

Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y.

Am J Med Genet. 2000 Oct 2;94(4):300-5. Review.

PMID:
11038443
[PubMed - indexed for MEDLINE]
7.

A severely affected female infant with x-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature.

Rakheja D, Read CP, Hull D, Boriack RL, Timmons CF.

Pediatr Dev Pathol. 2007 Mar-Apr;10(2):142-8. Review.

PMID:
17378690
[PubMed - indexed for MEDLINE]
8.

Punctate epiphyses: a radiological sign not a disease.

Poznanski AK.

Pediatr Radiol. 1994;24(6):418-24, 436. Review.

PMID:
7700718
[PubMed - indexed for MEDLINE]
9.

Genodermatoses in women.

Mevorah B, Politi Y.

Clin Dermatol. 1997 Jan-Feb;15(1):17-29. Review. No abstract available.

PMID:
9034652
[PubMed - indexed for MEDLINE]
10.

Spinal deformity in chondrodysplasia punctata.

Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R.

Spine (Phila Pa 1976). 2002 Sep 15;27(18):1995-2002. Review.

PMID:
12634559
[PubMed - indexed for MEDLINE]
11.

Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports.

Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J, Moser A.

Clin Genet. 1990 Aug;38(2):84-93. Review.

PMID:
2208770
[PubMed - indexed for MEDLINE]
12.

Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.

Argo KM, Toriello HV, Jelsema RD, Zuidema LJ.

Ultrasound Obstet Gynecol. 1996 Nov;8(5):350-4. Review.

PMID:
8978012
[PubMed - indexed for MEDLINE]
Free Article
13.

Airway manifestations of chondrodysplasia punctata.

Seguin JH, Baugh RF, McIntee RA.

Int J Pediatr Otorhinolaryngol. 1993 May;27(1):85-90. Review.

PMID:
8314671
[PubMed - indexed for MEDLINE]
14.

Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.

Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T.

Congenit Anom (Kyoto). 2013 Dec;53(4):160-2. doi: 10.1111/cga.12003. Review.

PMID:
24712475
[PubMed - indexed for MEDLINE]
15.

Chondrodysplasia punctata: case report and literature review of patients with heart lesions.

Fourie DT.

Pediatr Cardiol. 1995 Sep-Oct;16(5):247-50. Review.

PMID:
8524712
[PubMed - indexed for MEDLINE]
16.

Lyonization and the lines of Blaschko.

Happle R.

Hum Genet. 1985;70(3):200-6. Review.

PMID:
3894210
[PubMed - indexed for MEDLINE]
17.

Chondrodysplasia punctata: a case report.

Mulpruek P, Mulpruek T, Phatrakom C.

J Med Assoc Thai. 1992 Jan;75 Suppl 1:119-24. Review.

PMID:
1402454
[PubMed - indexed for MEDLINE]
18.

Stippled epiphyses in fetal alcohol syndrome.

Leicher-Düber A, Schumacher R, Spranger J.

Pediatr Radiol. 1990;20(5):369-70. Review.

PMID:
2190164
[PubMed - indexed for MEDLINE]
19.

Chondrodysplasia punctata (Conradi disease).

O'Brien TJ.

Int J Dermatol. 1990 Sep;29(7):472-6. Review. No abstract available.

PMID:
2228371
[PubMed - indexed for MEDLINE]
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