Detalhe da pesquisa
1.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
J Med Genet;
61(6): 549-552, 2024 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38272662
2.
Missense mutations in CASK, coding for the calcium-/calmodulin-dependent serine protein kinase, interfere with neurexin binding and neurexin-induced oligomerization.
J Neurochem;
157(4): 1331-1350, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33090494
3.
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.
Brain;
141(8): 2299-2311, 2018 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29985992
4.
A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.
Am J Med Genet A;
176(3): 663-667, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29314551
5.
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene-A Case Series.
Life (Basel);
14(5)2024 May 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38792648
6.
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
medRxiv;
2024 May 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38746364
7.
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
em Inglês
| MEDLINE
| ID: mdl-23949945
8.
Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.
Neuropediatrics;
44(5): 268-71, 2013 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23436495
9.
Hereditary papillary renal cell carcinoma primarily diagnosed in a cervical lymph node: a case report of a 30-year-old woman with multiple metastases.
BMC Urol;
13: 3, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23320739
10.
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
em Inglês
| MEDLINE
| ID: mdl-22315187
11.
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
em Inglês
| MEDLINE
| ID: mdl-22140031
12.
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
em Inglês
| MEDLINE
| ID: mdl-22246919
13.
LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death.
Genes (Basel);
13(2)2022 01 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35205214
14.
Familial intellectual disability and autistic behavior caused by a small FMR2 gene deletion.
Am J Med Genet A;
155A(8): 2003-7, 2011 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-21739600
15.
Generalized Arterial Calcification of Infancy Type 1 (GACI1): Identification of a Novel Pathogenic Variant (c.1715T>C (p.Leu572Ser)).
Diagnostics (Basel);
11(6)2021 Jun 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34199854
16.
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation.
Sci Immunol;
6(57)2021 03 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33712472
17.
Functional evaluation of paraplegin mutations by a yeast complementation assay.
Hum Mutat;
31(5): 617-21, 2010 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20186691
18.
A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype.
Swiss Med Wkly;
138(29-30): 432-6, 2008 Jul 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18654869
19.
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency.
J Exp Med;
215(5): 1327-1336, 2018 05 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29636373
20.
Atypical Parkinsonism with Pathological Dopamine Transporter Imaging in Neuronal Ceroid Lipofuscinosis Type 5.
Mov Disord Clin Pract;
9(8): 1116-1119, 2022 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36339300