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1.
Identification of a novel phenotype of external ear deformity related to Coffin-Siris syndrome-9 and literature review.
Am J Med Genet A
; : e63626, 2024 Apr 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38591849
2.
Silica-induced macrophage pyroptosis propels pulmonary fibrosis through coordinated activation of relaxin and osteoclast differentiation signaling to reprogram fibroblasts.
Ecotoxicol Environ Saf
; 273: 116106, 2024 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-38377782
3.
[Considerations on the improvement of height benefit in children with central precocious puberty]. / å ³äºæ¹åä¸æ¢æ§æ§æ©çæ£å¿èº«é«è·ççæè.
Zhongguo Dang Dai Er Ke Za Zhi
; 26(1): 19-24, 2024 Jan 15.
Artículo
en Zh
| MEDLINE | ID: mdl-38269454
4.
ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
Am J Med Genet A
; 191(5): 1240-1249, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36756859
5.
Indicators of glucose dysregulation and the relationship with iron overload in Chinese children with beta thalassemia major.
Pediatr Diabetes
; 23(5): 562-568, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34453777
6.
Polyethylene glycol recombinant human growth hormone in Chinese prepubertal slow-growing short children: doses reported in a multicenter real-world study.
BMC Endocr Disord
; 22(1): 201, 2022 Aug 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-35945517
7.
CNV profiles of Chinese pediatric patients with developmental disorders.
Genet Med
; 23(4): 669-678, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33402738
8.
Effective surgical treatment of life-threatening huge vascular anomalies associated with thrombocytopenia and coagulopathy in infants unresponsive to drug therapy.
BMC Pediatr
; 20(1): 187, 2020 04 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-32340603
9.
[Identification of a novel missense NIPBL variant in a juvenile with severe type of Cornelia de Lange syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 535-538, 2020 May 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32335880
10.
[Identification of a novel de novo variant of CSNK2A1 gene in a boy with Okur-Chung neurodevelopmental syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(6): 641-644, 2020 Jun 10.
Artículo
en Zh
| MEDLINE | ID: mdl-32472542
11.
Interleukin-10 inhibits interleukin-1ß production and inflammasome activation of microglia in epileptic seizures.
J Neuroinflammation
; 16(1): 66, 2019 Mar 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-30922332
12.
A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.
Cytogenet Genome Res
; 150(2): 112-117, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-28030855
13.
[Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases].
Zhongguo Dang Dai Er Ke Za Zhi
; 18(9): 840-845, 2016 Sep.
Artículo
en Zh
| MEDLINE | ID: mdl-27655541
14.
Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
Orphanet J Rare Dis
; 19(1): 205, 2024 May 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38764027
15.
Efficacy and safety of leuprorelin 3-month depot (11.25â¯mg) for idiopathic central precocious puberty treatment of Chinese girls: a single-center retrospective study.
J Pediatr Endocrinol Metab
; 37(1): 15-20, 2024 Jan 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-37975727
16.
Prevalence and implications of microplastic contaminants in general human seminal fluid: A Raman spectroscopic study.
Sci Total Environ
; 937: 173522, 2024 Aug 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-38802004
17.
Long-term Pegylated GH for Children With GH Deficiency: A Large, Prospective, Real-world Study.
J Clin Endocrinol Metab
; 108(8): 2078-2086, 2023 Jul 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36669772
18.
Human intravenous immunoglobulins suppress seizure activities and inhibit the activation of GFAP-positive astrocytes in the hippocampus of picrotoxin-kindled rats.
Int J Neurosci
; 122(4): 200-8, 2012 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22082354
19.
Primary erythromelalgia mainly manifested by hypertensive crisis: A case report and literature review.
Front Pediatr
; 10: 796149, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36052366
20.
Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: Novel ACAN heterozygous variants in eight Chinese children and a review of the literature.
Front Endocrinol (Lausanne)
; 13: 1015954, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36387899