Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
CL Hale, AN Niederriter, GE Green… - American Journal of …, 2016 - Wiley Online Library
CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae,
Retardation of growth and/or development, Genital and/or urinary anomalies, and Ear …
Retardation of growth and/or development, Genital and/or urinary anomalies, and Ear …
Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach
DR Dijk, G Bocca… - Journal of …, 2019 - Taylor & Francis
CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of
growth and/or development, Genital hypoplasia, Ear anomalies including hearing loss) …
growth and/or development, Genital hypoplasia, Ear anomalies including hearing loss) …
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most
common inner ear malformation identified in patients with sensorineural hearing loss. EVA is …
common inner ear malformation identified in patients with sensorineural hearing loss. EVA is …
A possible mechanism of zika virus associated microcephaly: imperative role of retinoic acid response element (RARE) consensus sequence repeats in the viral …
Owing to the reports of microcephaly as a consistent outcome in the fetuses of pregnant
women infected with ZIKV in Brazil, Zika virus (ZIKV)—microcephaly etiomechanistic …
women infected with ZIKV in Brazil, Zika virus (ZIKV)—microcephaly etiomechanistic …
CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia
A Consales, BL Crippa, L Colombo, R Villa… - Italian Journal of …, 2022 - Springer
Background CHARGE syndrome (CS) is an autosomal dominant genetic condition whose
recognition in the neonatal period is complicated by considerable phenotypic variability …
recognition in the neonatal period is complicated by considerable phenotypic variability …
[HTML][HTML] 甲状旁腺功能减退症发病机制的遗传学进展
全婷婷， 王鸥， 聂敏， 邢小平 - 中华骨质疏松和骨矿盐疾病杂志, 2017 - xml-data.org
甲状旁腺功能减退症(简称为甲旁减) 是因甲状旁腺素产生, 分泌减少而引起钙, 磷代谢异常,
其病因及发病机制的研究主要集中在遗传和免疫两方面, 近年来有关遗传机制的研究进展较多 …
其病因及发病机制的研究主要集中在遗传和免疫两方面, 近年来有关遗传机制的研究进展较多 …
Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation
Context Familial hypoparathyroidism has a heterogeneous presentation where patients
usually have low parathyroid hormone (PTH) levels due to impaired production or secretion …
usually have low parathyroid hormone (PTH) levels due to impaired production or secretion …
[HTML][HTML] Renal syndromic hearing loss is common in childhood-onset chronic kidney disease
JH Kim, DH Lee, B Lee, SH Lim… - Journal of Korean …, 2020 - synapse.koreamed.org
Background Hearing loss (HL) in children may adversely affect their development. HL is
more prevalent in patients with chronic kidney disease (CKD) than in the general population …
more prevalent in patients with chronic kidney disease (CKD) than in the general population …
Atopic disorders in CHARGE syndrome: A retrospective study and literature review
F Kong, DM Martin - European journal of medical genetics, 2018 - Elsevier
Background Atopic disorders have been reported in CHARGE syndrome, but the prevalence
and underlying mechanisms are not known. Methods We performed a retrospective study of …
and underlying mechanisms are not known. Methods We performed a retrospective study of …
Perspectives in pediatric pathology, chapter 14. Natural history of undescended testes
M Nistal, R Paniagua… - Pediatric and …, 2016 - journals.sagepub.com
Perspectives in Pediatric Pathology, Chapter 14. Natural History of Undescended Testes -
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016 Skip …
Manuel Nistal, Ricardo Paniagua, Pilar González-Peramato, Miguel Reyes-Múgica, 2016 Skip …