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    Results: 1 to 20 of 161

    1.

    Albinism: modern molecular diagnosis.

    Carden SM, Boissy RE, Schoettker PJ, Good WV.

    Br J Ophthalmol. 1998 Feb;82(2):189-95. Review. No abstract available. PMID: 9613388 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Ocular manifestations in aminoacidopathies.

    François J.

    Monogr Hum Genet. 1972;6:99-113. No abstract available. PMID: 4541412 [PubMed - indexed for MEDLINE]Related articles

    3.

    Neonatal dermatology. 3. Pigmentary lesions and hemangiomas.

    Esterly NB, Solomon LM.

    J Pediatr. 1972 Nov;81(5):1003-13. Review. No abstract available. PMID: 4563994 [PubMed - indexed for MEDLINE]Related articles

    4.

    [Hereditary anomalies of melanin metabolism (apropos of 5 cases)]

    Geormăneanu M, Sanielevici-Marinov S, Mark E, Gârbacea G, Gherghina I.

    Pediatria (Bucur). 1972 Jul-Aug;21(4):327-34. Romanian. No abstract available. PMID: 4661110 [PubMed - indexed for MEDLINE]Related articles

    5.

    Albinism and developmental delay: the need to test for 15q11-q13 deletion.

    Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE.

    Pediatr Neurol. 2007 Oct;37(4):299-302.PMID: 17903679 [PubMed - indexed for MEDLINE]Related articlesFree article

    6.

    [The Hermansky-Pudlak syndrome and the differential diagnosis of oculocutaneous albinism (author's transl)]

    Böhles H, Skrodzki K, Geissendörfer C, Krzywanek HJ.

    Klin Padiatr. 1981 Jan;193(1):3-6. German. PMID: 6782329 [PubMed - indexed for MEDLINE]Related articles

    7.

    [A new case of Waardenburg's syndrome]

    Malbrel C, Longuebray P, Jouhaud F.

    Bull Soc Ophtalmol Fr. 1982 Apr;82(4):579-81. French. No abstract available. PMID: 7105357 [PubMed - indexed for MEDLINE]Related articles

    8.

    Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant).

    Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C.

    Prenat Diagn. 1993 Jan;13(1):13-20.PMID: 8446567 [PubMed - indexed for MEDLINE]Related articles

    9.

    Partial anodontia in a case of Waardenburg's syndrome.

    Bandyopadhyay S, Prasad S, Singhania PK.

    J Laryngol Otol. 1999 Jul;113(7):672-4. Review.PMID: 10605569 [PubMed - indexed for MEDLINE]Related articles

    10.

    Unexpected Angelman syndrome molecular defect in a girl displaying clinical features of Prader-Willi syndrome.

    Dupont JM, Le Tessier D, Rabineau D, Cuisset L, Vasseur C, Jeanpierre M, Delpech M, Pinton F, Ponsot G, Denavit MF.

    J Med Genet. 1999 Aug;36(8):652-4. No abstract available. PMID: 10465123 [PubMed - indexed for MEDLINE]Related articlesFree article

    11.

    Open angle glaucoma as a manifestation of Waardenburg's syndrome.

    Gupta V, Aggarwal HC.

    Indian J Ophthalmol. 2000 Mar;48(1):49-50.PMID: 11271935 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    Albinism.

    Oetting WS.

    Curr Opin Pediatr. 1999 Dec;11(6):565-71. Review.PMID: 10590917 [PubMed - indexed for MEDLINE]Related articles

    13.

    [Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis]

    Santa María L, Curotto B, Cortés F, Rojas C, Alliende MA.

    Rev Med Chil. 2001 Apr;129(4):367-74. Spanish. PMID: 11413988 [PubMed - indexed for MEDLINE]Related articles

    14.

    Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype.

    Wallis CE, Beighton PH.

    J Med Genet. 1989 May;26(5):337-9.PMID: 2732995 [PubMed - indexed for MEDLINE]Related articlesFree article

    15.

    Waardenburg's syndrome and Hirschsprung's disease in the same patient.

    Fried K, Beer S.

    Clin Genet. 1980 Jul;18(1):91-2. No abstract available. PMID: 7418259 [PubMed - indexed for MEDLINE]Related articles

    16.

    Shah Waardenberg syndrome.

    Gupta PR, Chowdhary SK, Joshi K, Shukla R, Rao KL.

    Indian J Pediatr. 2002 May;69(5):447-9.PMID: 12061683 [PubMed - indexed for MEDLINE]Related articles

    17.

    Waardenburg's syndrome with facial palsy and lingua plicata: is that a new type of disease?

    Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK.

    Cutis. 1999 Mar;63(3):139-41. No abstract available. PMID: 10190061 [PubMed - indexed for MEDLINE]Related articles

    18.

    Vasoproliferative tumour of the ocular fundus associated with Waardenburg's syndrome.

    Rundle P, Shields JA, Shields CL, Singh AD, Peairs R.

    Eye (Lond). 2000 Feb;14 ( Pt 1):105-6. No abstract available. PMID: 10755116 [PubMed - indexed for MEDLINE]Related articles

    19.

    Waardenburg's syndrome associated with ostium secundum atrial septal defect.

    Banerjee AK.

    J R Soc Med. 1986 Nov;79(11):677-8. No abstract available. PMID: 3795215 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Syndromic albinism: a review of genetics and phenotypes.

    Scheinfeld NS.

    Dermatol Online J. 2003 Dec;9(5):5. Review.PMID: 14996378 [PubMed - indexed for MEDLINE]Related articlesFree article

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