Fitzpatrick DL - Search Results

1

Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Huizing M, Scher CD, Strovel E, Fitzpatrick DL, Hartnell LM, Anikster Y, Gahl WA. Huizing M, et al. Among authors: fitzpatrick dl. Pediatr Res. 2002 Feb;51(2):150-8. doi: 10.1203/00006450-200202000-00006. Pediatr Res. 2002. PMID: 11809908

2

Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR. Anikster Y, et al. Among authors: fitzpatrick dl. Nat Genet. 2001 Aug;28(4):376-80. doi: 10.1038/ng576. Nat Genet. 2001. PMID: 11455388

3

Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

Huizing M, Anikster Y, Fitzpatrick DL, Jeong AB, D'Souza M, Rausche M, Toro JR, Kaiser-Kupfer MI, White JG, Gahl WA. Huizing M, et al. Among authors: fitzpatrick dl. Am J Hum Genet. 2001 Nov;69(5):1022-32. doi: 10.1086/324168. Epub 2001 Oct 3. Am J Hum Genet. 2001. PMID: 11590544 Free PMC article.

4

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Anikster Y, Huizing M, Anderson PD, Fitzpatrick DL, Klar A, Gross-Kieselstein E, Berkun Y, Shazberg G, Gahl WA, Hurvitz H. Anikster Y, et al. Among authors: fitzpatrick dl. Am J Hum Genet. 2002 Aug;71(2):407-14. doi: 10.1086/341606. Epub 2002 Jun 7. Am J Hum Genet. 2002. PMID: 12058346 Free PMC article.

5

Natural history of alkaptonuria.

Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Phornphutkul C, et al. Among authors: fitzpatrick dl. N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223 Free article.

6

Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.

Introne WJ, Phornphutkul C, Bernardini I, McLaughlin K, Fitzpatrick D, Gahl WA. Introne WJ, et al. Mol Genet Metab. 2002 Sep-Oct;77(1-2):136-42. doi: 10.1016/s1096-7192(02)00121-x. Mol Genet Metab. 2002. PMID: 12359141

7

Diagnosis and management of thyroid disease in pregnancy.

Fitzpatrick DL, Russell MA. Fitzpatrick DL, et al. Obstet Gynecol Clin North Am. 2010 Jun;37(2):173-93. doi: 10.1016/j.ogc.2010.02.007. Obstet Gynecol Clin North Am. 2010. PMID: 20685547 Review.

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