Detalhe da pesquisa
1.
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.
Am J Hum Genet
; 106(1): 58-70, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883645
2.
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
BMC Cardiovasc Disord
; 21(1): 126, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673806
3.
The combined status of ATM and p53 link tumor development with therapeutic response.
Genes Dev
; 23(16): 1895-909, 2009 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19608766
4.
Childhood growth in boys with congenital hypogonadotropic hypogonadism.
Pediatr Res
; 79(5): 705-9, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26720605
5.
Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Genet Med
; 17(8): 651-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394172
6.
Childhood growth of females with Kallmann syndrome and FGFR1 mutations.
Clin Endocrinol (Oxf)
; 82(1): 122-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24841555
7.
A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.
Pediatr Res
; 78(6): 709-11, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331766
8.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Am J Hum Genet
; 88(5): 635-42, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549344
9.
Hereditary myopathy with early respiratory failure: occurrence in various populations.
J Neurol Neurosurg Psychiatry
; 85(3): 345-53, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23606733
10.
Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism.
Pediatr Res
; 75(5): 641-4, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24522099
11.
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Front Cardiovasc Med
; 10: 1254272, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37795486
12.
NQO1 expression correlates inversely with NFκB activation in human breast cancer.
Breast Cancer Res Treat
; 132(3): 955-68, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21706157
13.
Variants on the promoter region of PTEN affect breast cancer progression and patient survival.
Breast Cancer Res
; 13(6): R130, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22171747
14.
Gonadotropin-releasing hormone receptor mutations in ageing men.
Clin Endocrinol (Oxf)
; 84(1): 150-1, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26044071
15.
GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy.
Front Genet
; 12: 786705, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34899865
16.
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PLoS One
; 16(2): e0245681, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534821
17.
Combined effects of single nucleotide polymorphisms TP53 R72P and MDM2 SNP309, and p53 expression on survival of breast cancer patients.
Breast Cancer Res
; 11(6): R89, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-20021639
18.
De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss.
Pediatr Res
; 76(1): 115-6, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24769923
19.
Do MDM2 SNP309 and TP53 R72P interact in breast cancer susceptibility? A large pooled series from the breast cancer association consortium.
Cancer Res
; 67(19): 9584-90, 2007 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17909070
20.
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism.
Clin Endocrinol (Oxf)
; 78(2): 316-7, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22788855