Detalhe da pesquisa
1.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
J Med Genet
; 59(9): 865-877, 2022 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34815299
2.
GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review.
Endocr J
; 66(5): 403-408, 2019 May 28.
Artigo
Inglês
| MEDLINE | ID: mdl-30814395
3.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25865493
4.
Giant umbilical cord and hypoglycemia in an infant with Proteus syndrome.
Am J Med Genet A
; 176(5): 1222-1224, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29681107
5.
Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.
Am J Med Genet A
; 167A(12): 3144-7, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26286251
6.
Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.
Pediatr Blood Cancer
; 62(12): 2082-8, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26175287
7.
Marked pleural effusion after i.v. immunoglobulin therapy for Kawasaki disease.
Pediatr Int
; 60(3): 307-308, 2018 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-29480538
8.
6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.
Pediatr Int
; 55(3): 376-81, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23782370
9.
Evaluating Dysfunction in Fever-Induced Paroxysmal Weakness and Encephalopathy.
Children (Basel)
; 10(4)2023 Apr 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37189952
10.
The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
Am J Med Genet A
; 158A(6): 1292-303, 2012 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-22528406
11.
Transient isolated marked elevation of midregion parathyroid hormone fragments in an infant.
J Pediatr Endocrinol Metab
; 25(9-10): 1031-3, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23426839
12.
Shprintzen-Goldberg syndrome associated with first cervical vertebra defects.
Pediatr Int
; 59(10): 1098-1100, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28857439
13.
[A case of recurrent paraneoplastic cerebellar ataxia with antibodies to GluR epsilon 2 causally related to ganglioneuroma].
No To Hattatsu
; 42(4): 297-301, 2010 Jul.
Artigo
Japonês
| MEDLINE | ID: mdl-20666137
14.
Disorder of sex development in an infant with molecularly confirmed 46,XY, +der(10)t(10;21)(q21.1;q21.3), -21.
Am J Med Genet A
; 164A(3): 841-3, 2014 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24443358
15.
Pre-B-cell acute lymphoblastic leukemia in a boy with hereditary multiple exostoses caused by EXT1 deletion.
Pediatr Hematol Oncol
; 31(7): 667-9, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25116165
16.
Transvestism Recognized in Ehlers-Danlos Syndrome: Report of Two Cases.
Case Rep Psychiatry
; 2019: 7472301, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31467760
17.
Carotid intima media thickness in a girl with sitosterolemia carrying a homozygous mutation in the ABCG5 gene.
J Pediatr Endocrinol Metab
; 30(9): 1007-1011, 2017 Aug 28.
Artigo
Inglês
| MEDLINE | ID: mdl-28771437
18.
Total energy intake accounts for postnatal anthropometric growth in moderately/late preterm infants.
J Matern Fetal Neonatal Med
; 30(9): 1080-1084, 2017 May.
Artigo
Inglês
| MEDLINE | ID: mdl-27296357
19.
Inflammatory mediator ultra-low-molecular-weight hyaluronan triggers necrosis of B-precursor leukemia cells with high surface CD44 expression.
Cell Death Dis
; 8(6): e2857, 2017 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28569787
20.
Recurrent focal myositis in an infant: a report of the youngest case.
J Paediatr Child Health
; 46(12): 785-6, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21166916