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Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L. Buers I, et al. Clin Genet. 2020 Jan;97(1):209-221. doi: 10.1111/cge.13639. Epub 2019 Sep 16. Clin Genet. 2020. PMID: 31497877 Review.
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory difficulties often leading to sudden death in the neonatal period. ...Recently, variants in other genes, including KLHL …
Crisponi/cold-induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, fee …
Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment.
Juriaans AF, Kerkhof GF, Garrelfs M, Trueba-Timmermans D, Hokken-Koelega ACS. Juriaans AF, et al. Horm Res Paediatr. 2024;97(2):148-156. doi: 10.1159/000531629. Epub 2023 Jun 21. Horm Res Paediatr. 2024. PMID: 37343528 Free article.
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MAGEL2 gene, located in the Prader-Willi syndrome (PWS) region. ...
INTRODUCTION: Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder caused by truncating mutations of the MA …
The Spectrum of the Prader-Willi-like Pheno- and Genotype: A Review of the Literature.
Juriaans AF, Kerkhof GF, Hokken-Koelega ACS. Juriaans AF, et al. Endocr Rev. 2022 Jan 12;43(1):1-18. doi: 10.1210/endrev/bnab026. Endocr Rev. 2022. PMID: 34460908 Review.
Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. ...We describe mutations and aberrations for consideration when suspicion of PWS remains after negative testing. The most common gen …
Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 …
Genetic testing and PGD for unexplained recurrent fetal malformations with MAGEL2 gene mutation.
Guo W, Nie Y, Yan Z, Zhu X, Wang Y, Guan S, Kuo Y, Zhang W, Zhi X, Wei Y, Yan L, Qiao J. Guo W, et al. Sci China Life Sci. 2019 Jul;62(7):886-894. doi: 10.1007/s11427-019-9541-0. Epub 2019 May 30. Sci China Life Sci. 2019. PMID: 31152388
Using trio-whole exome sequencing (trio-WES) for this couple and one of the affected fetuses, we found a mutation, c.1996delC on the maternal imprinted gene MAGEL2 that was carried by the affected fetus and husband, leading to Schaaf-Yang syndrome. To screen …
Using trio-whole exome sequencing (trio-WES) for this couple and one of the affected fetuses, we found a mutation, c.1996delC on the materna …
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W, Wang Y, Lu Y, Ye T, Song C, Xu Y, Li M, Ding J, Duan Y, Zhang L, Gu W, Zhao X, Yang XA, Jin D. Tong W, et al. Sci Rep. 2018 Mar 26;8(1):5214. doi: 10.1038/s41598-018-23503-2. Sci Rep. 2018. PMID: 29581464 Free PMC article.
Finally, diagnosis of methylmalonic aciduria and homocystinuria, glycogen storage disease, ornithine transcarbamylase deficiency, glutaric acidemia II, mitochondrial complex 1 deficiency, carnitine deficiency, and Schaaf-Yang syndrome was made in 12 out of th …
Finally, diagnosis of methylmalonic aciduria and homocystinuria, glycogen storage disease, ornithine transcarbamylase deficiency, glutaric a …