Detalhe da pesquisa
1.
Congenital metastatic neuroblastoma with placental involvement as a rare cause of non-immune fetal hydrops.
J Obstet Gynaecol Res
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747123
2.
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Clin Genet
; 104(1): 100-106, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37121912
3.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Am J Med Genet A
; 188(9): 2819-2824, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779070
4.
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Am J Med Genet A
; 185(3): 856-865, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305909
5.
First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction.
Am J Med Genet A
; 182(4): 628-631, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31912643
6.
Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.
Am J Med Genet A
; 182(11): 2715-2721, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32856782
7.
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Am J Med Genet A
; 182(9): 2068-2076, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592542
8.
Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.
Clin Endocrinol (Oxf)
; 88(6): 820-829, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29464738
9.
Severe Thrombocytopenia as the Main Manifestation of Childhood-Onset Systemic Lupus Erythematosus.
Mediterr J Rheumatol
; 33(4): 459-464, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034366
10.
Impact of muscle mass on the prognosis of liver transplantation for infants with biliary atresia.
Front Pediatr
; 10: 1093880, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36727007
11.
Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome.
Front Genet
; 13: 1089417, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36685936
12.
Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants.
Eur J Med Genet
; 64(5): 104198, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33746040
13.
Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2.
Eur J Med Genet
; 64(10): 104307, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407464
14.
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Eur J Endocrinol
; 185(5): 691-705, 2021 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34516402
15.
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
J Clin Endocrinol Metab
; 105(8)2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311039
16.
Advantages of Cardiac Magnetic Resonance Imaging for Severe Pectus Excavatum Assessment in Children.
Eur J Pediatr Surg
; 28(1): 34-38, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28759900
17.
[High-resolution computed tomography patterns of organizing pneumonia]. / Patrones de presentación de la neumonía organizada mediante tomografía computarizada de alta resolución.
Arch Bronconeumol
; 42(8): 413-6, 2006 Aug.
Artigo
em Espanhol
| MEDLINE | ID: mdl-16948996
18.
[Chronic constipation due to Currarino syndrome]. / Estreñimiento crónico debido a síndrome de Currarino.
An Pediatr (Engl Ed)
; 93(5): 349-351, 2020 Nov.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31928948
19.
Estreñimiento crónico debido a síndrome de Currarino / Chronic constipation due to Currarino síndrome
An. pediatr. (2003. Ed. impr.)
; 93(5): 349-351, nov. 2020. ilus
Artigo
em Espanhol
| IBECS (Espanha) | ID: ibc-198109
20.
Patrones de presentación de la neumonía organizada mediante tomografía computarizada de alta resolución / High-resolution computed tomography patterns of organizing pneumonia
Arch. bronconeumol. (Ed. impr.)
; 42(8): 413-416, ago. 2006. ilus
Artigo
em Es
| IBECS (Espanha) | ID: ibc-049649