Detalhe da pesquisa
1.
Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.
J Med Genet
; 59(6): 549-553, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34172529
2.
Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome.
Clin Genet
; 101(5-6): 559-564, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35218564
3.
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Am J Med Genet A
; 185(4): 1216-1221, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33427397
4.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum Genet
; 139(11): 1443-1454, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-32514796
5.
Mast cells increase vascular permeability by heparin-initiated bradykinin formation in vivo.
Immunity
; 34(2): 258-68, 2011 Feb 25.
Artigo
Inglês
| MEDLINE | ID: mdl-21349432
6.
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Hum Genet
; 135(7): 813-26, 2016 07.
Artigo
Inglês
| MEDLINE | ID: mdl-27138983
7.
Prognostic value of CXCL12 and CXCR4 in inoperable head and neck squamous cell carcinoma.
Strahlenther Onkol
; 192(1): 47-54, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26374452
8.
High-grade acute organ toxicity and p16(INK4A) expression as positive prognostic factors in primary radio(chemo)therapy for patients with head and neck squamous cell carcinoma.
Strahlenther Onkol
; 191(7): 566-72, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25575976
9.
Valproic acid inhibits the proliferation of cancer cells by re-expressing cyclin D2.
Carcinogenesis
; 34(5): 1115-24, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23349020
10.
A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: further characterization and review.
Am J Med Genet A
; 161A(10): 2634-40, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23949945
11.
Targeting coagulation factor XII provides protection from pathological thrombosis in cerebral ischemia without interfering with hemostasis.
J Exp Med
; 203(3): 513-8, 2006 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-16533887
12.
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.
Am J Med Genet A
; 158A(3): 652-8, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22315187
13.
A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect.
Am J Med Genet A
; 158A(1): 229-35, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22140031
14.
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy.
Am J Med Genet A
; 158A(2): 429-33, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22246919
15.
N-cadherin expression in malignant germ cell tumours of the testis.
BMC Clin Pathol
; 12: 19, 2012 Oct 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23066729
16.
Defective thrombus formation in mice lacking coagulation factor XII.
J Exp Med
; 202(2): 271-81, 2005 Jul 18.
Artigo
Inglês
| MEDLINE | ID: mdl-16009717
17.
Pelota interacts with HAX1, EIF3G and SRPX and the resulting protein complexes are associated with the actin cytoskeleton.
BMC Cell Biol
; 11: 28, 2010 Apr 20.
Artigo
Inglês
| MEDLINE | ID: mdl-20406461
18.
Dual silencing of insulin-like growth factor-I receptor and epidermal growth factor receptor in colorectal cancer cells is associated with decreased proliferation and enhanced apoptosis.
Mol Cancer Ther
; 8(4): 821-33, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19372555
19.
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Mol Syndromol
; 11(1): 30-37, 2020 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32256299
20.
A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism.
J Pediatr
; 155(1): 140-3, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19559301