JCRPE Journal of Clinical Research in Pediatric Endocrinology This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Clinical Variability in a Noonan Syndrome Family with a Homozygous < em > PTPN11 < /em > Gene Variant in Two Individuals
CONCLUSION: A variant that had been described before in the literature was detected in the PTPN11 gene and this variant was homozygous in two patients. To the best of our knowledge, these are the first homozygous PTPN11 case reports in the literature, coming from two related consanguineous families.PMID:37847107 | DOI:10.4274/jcrpe.galenos.2023.2023-5-16 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Ruken Y ıldırım Edip Unal Şervan Özalkak Ak çahan Akalın Ay ça Aykut Nevzat Y ılmaz Source Type: research

Relationship of Glucagon-like Peptide 1 and Peptide YY with Catch-up Growth in Children Born Small for Gestational Age
CONCLUSION: Lower GLP-1 concentrations may be associated with abnormal glucose metabolism in prepubertal children born SGA with catch-up growth. Impaired intestinal L cell function may be involved in the development of metabolic complications in SGA children.PMID:37847108 | DOI:10.4274/jcrpe.galenos.2023.2023-5-21 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Li Wang Zhe Su Yu-Chuan Li Bing-Yan Cao Chang Su Chun-Xiu Gong Source Type: research

Clinical Variability in a Noonan Syndrome Family with a Homozygous < em > PTPN11 < /em > Gene Variant in Two Individuals
CONCLUSION: A variant that had been described before in the literature was detected in the PTPN11 gene and this variant was homozygous in two patients. To the best of our knowledge, these are the first homozygous PTPN11 case reports in the literature, coming from two related consanguineous families.PMID:37847107 | DOI:10.4274/jcrpe.galenos.2023.2023-5-16 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Ruken Y ıldırım Edip Unal Şervan Özalkak Ak çahan Akalın Ay ça Aykut Nevzat Y ılmaz Source Type: research

Relationship of Glucagon-like Peptide 1 and Peptide YY with Catch-up Growth in Children Born Small for Gestational Age
CONCLUSION: Lower GLP-1 concentrations may be associated with abnormal glucose metabolism in prepubertal children born SGA with catch-up growth. Impaired intestinal L cell function may be involved in the development of metabolic complications in SGA children.PMID:37847108 | DOI:10.4274/jcrpe.galenos.2023.2023-5-21 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Li Wang Zhe Su Yu-Chuan Li Bing-Yan Cao Chang Su Chun-Xiu Gong Source Type: research

Clinical Variability in a Noonan Syndrome Family with a Homozygous < em > PTPN11 < /em > Gene Variant in Two Individuals
CONCLUSION: A variant that had been described before in the literature was detected in the PTPN11 gene and this variant was homozygous in two patients. To the best of our knowledge, these are the first homozygous PTPN11 case reports in the literature, coming from two related consanguineous families.PMID:37847107 | DOI:10.4274/jcrpe.galenos.2023.2023-5-16 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Ruken Y ıldırım Edip Unal Şervan Özalkak Ak çahan Akalın Ay ça Aykut Nevzat Y ılmaz Source Type: research