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Items 1 - 20 of 62
 
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1: Gianotti F. Related Articles, Links
No abstract Inherited ichthyosiform dermatoses in childhood.
J Dermatol. 1980 Feb;7(1):1-9. Review. No abstract available.
PMID: 15462069 [PubMed - indexed for MEDLINE]
2: Zweers MC, Hakim AJ, Grahame R, Schalkwijk J. Related Articles, Links
No abstract Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects.
Arthritis Rheum. 2004 Sep;50(9):2742-9. Review. No abstract available.
PMID: 15457441 [PubMed - indexed for MEDLINE]
3: Everson GT, Taylor MR, Doctor RB. Related Articles, Links
Abstract Polycystic disease of the liver.
Hepatology. 2004 Oct;40(4):774-82. Review.
PMID: 15382167 [PubMed - indexed for MEDLINE]
4: Bouayed Abdelmoula N, Portnoi MF, Amouri A, Arladan A, Chakroun M, Saad A, Hchicha M, Turki H, Rebai T. Related Articles, Links
Abstract Turner syndrome female with a small ring X chromosome lacking the XIST, an unexpectedly mild phenotype and an atypical association with alopecia universalis.
Ann Genet. 2004 Jul-Sep;47(3):305-13. Review.
PMID: 15337477 [PubMed - indexed for MEDLINE]
5: Le Caignec C, Boceno M, Jacquemont S, Nguyen The Tich S, Rival JM, David A. Related Articles, Links
Abstract Inherited ring chromosome 8 without loss of subtelomeric sequences.
Ann Genet. 2004 Jul-Sep;47(3):289-96. Review.
PMID: 15337475 [PubMed - indexed for MEDLINE]
6: Akcar N, Adapinar B, Dinleyici C, Durak B, Ozkan IR. Related Articles, Links
Abstract A case of macrocephaly-cutis marmorata telangiectatica congenita and review of neuroradiologic features.
Ann Genet. 2004 Jul-Sep;47(3):261-5. Review.
PMID: 15337471 [PubMed - indexed for MEDLINE]
7: Kotzot D. Related Articles, Links
Abstract Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting.
Ann Genet. 2004 Jul-Sep;47(3):251-60. Review.
PMID: 15337470 [PubMed - indexed for MEDLINE]
8: Chantot-Bastaraud S, Muti C, Pipiras E, Routon MC, Roubergue A, Burglen L, Siffroi JP, Simon-Bouy B. Related Articles, Links
Abstract Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.
Ann Genet. 2004 Jul-Sep;47(3):241-9. Review.
PMID: 15337469 [PubMed - indexed for MEDLINE]
9: Cho YG, Kim DS, Lee HS, Cho SC, Choi SI. Related Articles, Links
Abstract A case of 49,XXXXX in which the extra X chromosomes were maternal in origin.
J Clin Pathol. 2004 Sep;57(9):1004-6. Review.
PMID: 15333671 [PubMed - indexed for MEDLINE]
10: Haas K. Related Articles, Links
No abstract Who will make room for the intersexed?
Am J Law Med. 2004;30(1):41-68. Review. No abstract available.
PMID: 15328928 [PubMed - indexed for MEDLINE]
11: Auer-Grumbach M. Related Articles, Links
Abstract Hereditary sensory neuropathies.
Drugs Today (Barc). 2004 May;40(5):385-94. Review.
PMID: 15319794 [PubMed - indexed for MEDLINE]
12: Nebesio TD, Kreher NC, Hannon TS. Related Articles, Links
Abstract Infant with classic congenital adrenal hyperplasia (CAH) born to a mother with classic CAH.
J Pediatr. 2004 Aug;145(2):250-2. Review.
PMID: 15289778 [PubMed - indexed for MEDLINE]
13: Dimitrov B, Devriendt K, Maas NM, Vermeesch JR, Zahariev D, Popova DA, Fryns JP, Simeonov E. Related Articles, Links
Abstract Mesomelic form of chondrodysplasia and congenital glaucoma associated with de novo translocation (13;18)(q14;q23).
Genet Couns. 2004;15(2):191-7. Review.
PMID: 15287419 [PubMed - indexed for MEDLINE]
14: Thomas S, Parker M, Tan J, Duckett D, Woodruff G. Related Articles, Links
Abstract Ocular manifestations of mosaic trisomy 22: a case report and review of the literature.
Ophthalmic Genet. 2004 Mar;25(1):53-6. Review.
PMID: 15255116 [PubMed - indexed for MEDLINE]
15: Bichet DG, Fujiwara TM. Related Articles, Links
No abstract The quest for the gene responsible for medullary cystic kidney disease type 1.
Kidney Int. 2004 Aug;66(2):864-5. Review. No abstract available.
PMID: 15253745 [PubMed - indexed for MEDLINE]
16: DiGiovanna JJ. Related Articles, Links
No abstract Ichthyosiform dermatoses: so many discoveries, so little progress.
J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S31-4. Review. No abstract available.
PMID: 15243501 [PubMed - indexed for MEDLINE]
17: Bercovitch L, Terry P. Related Articles, Links
No abstract Pseudoxanthoma elasticum 2004.
J Am Acad Dermatol. 2004 Jul;51(1 Suppl):S13-4. Review. No abstract available.
PMID: 15243491 [PubMed - indexed for MEDLINE]
18: Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM. Related Articles, Links
Abstract De novo interstitial duplication 4(q28.1q35) associated with choanal atresia.
J Paediatr Child Health. 2004 Jul;40(7):401-3. Review.
PMID: 15228573 [PubMed - indexed for MEDLINE]
19: Chodhari R, Mitchison HM, Meeks M. Related Articles, Links
Abstract Cilia, primary ciliary dyskinesia and molecular genetics.
Paediatr Respir Rev. 2004 Mar;5(1):69-76. Review.
PMID: 15222957 [PubMed - indexed for MEDLINE]
20: Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Related Articles, Links
Free in PMC Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
BMC Med Genet. 2004 Jun 25;5(1):17. Review.
PMID: 15219231 [PubMed - indexed for MEDLINE]
Items 1 - 20 of 62
 
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Oct 29 2004 13:56:18