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Items: 1 to 20 of 247

1.

Lethal non-rhizomelic dysplasia epiphysealis punctata.

Kozlowski K, Godlonton J, Gardner J, Beighton P.

Clin Dysmorphol. 2002 Jul;11(3):203-8.

PMID:
12072802
2.

[Case report: Rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn].

Yalin CT, Bayrak IK, Danaci M, Incesu L.

Tani Girisim Radyol. 2003 Mar;9(1):100-3. Turkish.

3.

Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis.

Kumada S, Hayashi M, Kenmochi J, Kurosawa S, Shimozawa N, Kratz LE, Kelley RI, Taki K, Okaniwa M.

Am J Med Genet. 2001 Jan 22;98(3):250-5.

PMID:
11169563
4.

Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.

Phadke SR, Gupta N, Girisha KM, Kabra M, Maeda M, Vidal E, Moser A, Steinberg S, Puri RD, Verma IC, Braverman N.

J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717.

PMID:
20145307
5.

Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata.

Hertzberg BS, Kliewer MA, Decker M, Miller CR, Bowie JD.

J Ultrasound Med. 1999 Oct;18(10):715-8.

6.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT.

Neurology. 2006 Mar 28;66(6):798-803; discussion 789.

PMID:
16567694
7.

Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature.

Shanske AL, Bernstein L, Herzog R.

Pediatrics. 2007 Aug;120(2):e436-41. Review.

PMID:
17671048
8.

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.

Motley AM, Tabak HF, Smeitink JA, Poll-The BT, Barth PG, Wanders RJ.

Biochim Biophys Acta. 1996 Apr 12;1315(3):153-8.

PMID:
8611652
9.
10.

[Ocular phenotype in a child with chondrodysplasia punctata, rhizomelic form].

Sanchez E, Munier F, Evéquoz B, Marcoz JP, Balmer A.

Klin Monbl Augenheilkd. 1997 May;210(5):329-31. French.

PMID:
9324546
11.

Cervical spine stenosis in chondrodysplasia punctata.

Violas P, Fraisse B, Chapuis M, Bracq H.

J Pediatr Orthop B. 2007 Nov;16(6):443-5.

PMID:
17909344
12.
13.

Cervical stenosis secondary to rhizomelic chondrodysplasia punctata.

Khanna AJ, Braverman NE, Valle D, Sponseller PD.

Am J Med Genet. 2001 Feb 15;99(1):63-6.

PMID:
11170096
14.

X-linked dominant chondrodysplasia punctata: a case report and family studies.

Mueller RF, Crowle PM, Jones RA, Davison BC.

Am J Med Genet. 1985 Jan;20(1):137-44.

PMID:
4038582
15.

Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata.

Sherer DM, Glantz JC, Allen TA, Lonardo F, Metlay LA.

Obstet Gynecol. 1994 May;83(5 Pt 2):858-60.

PMID:
8159377
16.

Chondrodysplasia punctata, humero-metacarpal type: a second case.

Fryburg JS, Kelly TE.

Am J Med Genet. 1996 Aug 23;64(3):493-6.

PMID:
8862628
17.

X-linked dominant chondrodysplasia punctata: a peroxisomal disorder?

Wilson CJ, Aftimos S.

Am J Med Genet. 1998 Jul 7;78(3):300-2.

PMID:
9677071
18.

Rhizomelic chondrodysplasia punctata-like phenotype in a newborn male with normal peroxisomal function.

Mota CR, Vilarinho A, Nogueira A, Lima MR.

J Pediatr Orthop B. 1997 Jan;6(1):20-3.

PMID:
9039662
19.

Multivoxel magnetic resonance spectroscopy in a rhizomelic chondrodysplasia punctata case.

Sigirci A, Alkan A, Kutlu R, Gülcan H.

J Child Neurol. 2005 Aug;20(8):698-701.

PMID:
16225820
20.
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