Detalhe da pesquisa
1.
[Hereditary breast cancer: genetic etiology and current possibilities of prevention and surgical treatment]. / Hereditární formy karcinomu prsu: genetická etiologie a soucasné moznosti prevence a chirurgické lécby.
Cas Lek Cesk
; 157(2): 90-95, 2018.
Artigo
em Tcheco
| MEDLINE | ID: mdl-29790359
2.
Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
Genet Med
; 18(12): 1226-1234, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27101134
3.
Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
Neuro Endocrinol Lett
; 37(4): 269-276, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27857042
4.
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
BMC Med Genet
; 16: 116, 2015 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-26695994
5.
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Am J Med Genet A
; 164A(5): 1218-21, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458596
6.
Germline multigene panel testing of patients with endometrial cancer.
Oncol Lett
; 25(6): 216, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37153042
7.
Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.
Am J Med Genet A
; 167A(1): 264-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25348648
8.
Mutations in STK11 gene in Czech Peutz-Jeghers patients.
BMC Med Genet
; 10: 69, 2009 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-19615099
9.
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease.
Pediatr Nephrol
; 24(5): 983-9, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19194729
10.
Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes.
Klin Onkol
; 32(Supplementum2): 14-23, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31409077
11.
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Orphanet J Rare Dis
; 14(1): 92, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31046801
12.
A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis.
Eur J Gastroenterol Hepatol
; 19(6): 513-7, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17489063
13.
Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.
Eur J Med Genet
; 59(3): 152-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657402
14.
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.
Neurology
; 80(5): 438-46, 2013 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-23284067
15.
Hypophosphatasia due to uniparental disomy.
Bone
; 81: 765-766, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25937451
16.
Paraganglioma in a 13-year-old girl: a novel SDHB gene mutation in the family?
Cancer Genet Cytogenet
; 197(2): 189-92, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20193854
17.
DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.
Am J Med Genet A
; 117A(1): 1-5, 2003 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-12548732