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1.
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.
Genet Med
; 22(7): 1235-1246, 2020 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-32307445
2.
First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.
Mol Vis
; 20: 691-703, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24883014
3.
Wolfram Syndrome: A case report of two sisters Wolfram Syndrome: Case report of two sisters.
Am J Ophthalmol Case Rep
; 26: 101452, 2022 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-35252627
4.
Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene.
World J Surg Oncol
; 9: 6, 2011 Jan 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-21266030
5.
Donor-derived breast cancer in a bone marrow transplantation recipient.
Breast Cancer Res Treat
; 113(2): 211-3, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18264757
6.
Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1.
Clin Endocrinol (Oxf)
; 70(1): 75-81, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18549467
7.
G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.
Breast Cancer Res Treat
; 110(2): 377-85, 2008 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-17902052
8.
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.
Am J Ophthalmol Case Rep
; 10: 172-179, 2018 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-29780932
9.
Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles".
J Ophthalmol
; 2018: 3039672, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-30647958
10.
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
EBioMedicine
; 30: 86-93, 2018 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-29506874
11.
Structural analysis and expression profile of a novel gene on chromosome 5q23 encoding a Golgi-associated protein with six splice variants, and involved within the 5q deletion of a Ph(-) CML patient.
Leuk Res
; 29(1): 17-31, 2005 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-15541471
12.
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
Hormones (Athens)
; 13(1): 146-52, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24722136
13.
Novel mutations of the HRAS gene and absence of hotspot mutations of the BRAF genes in oral squamous cell carcinoma in a Greek population.
Oncol Rep
; 27(5): 1555-60, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22294102
14.
Identification of two novel mutations in the RET proto-oncogene in the same family.
Thyroid
; 20(4): 401-6, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20373984
15.
Absence of hotspot mutations in exons 9 and 20 of the PIK3CA gene in human oral squamous cell carcinoma in the Greek population.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
; 109(5): e53-8, 2010 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-20416519
16.
A novel germline mutation of the VHL gene in a Greek family with Von Hippel-Lindau disease.
BMJ Case Rep
; 20092009.
Artículo
en Inglés
| MEDLINE | ID: mdl-21853002
17.
Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.
Eur J Endocrinol
; 159(6): 767-71, 2008 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-18805915
18.
Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.
Breast Cancer Res Treat
; 107(3): 431-41, 2008 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-17453335
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