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Quoted phrase not found in phrase index: "Tall stature-intellectual disability-renal anomalies syndrome"
Page 1
A review of trisomy X (47,XXX).
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. Tartaglia NR, et al. Orphanet J Rare Dis. 2010 May 11;5:8. doi: 10.1186/1750-1172-5-8. Orphanet J Rare Dis. 2010. PMID: 20459843 Free PMC article. Review.
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). ...As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy …
Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX in …
Overgrowth.
Verge CF, Mowat D. Verge CF, et al. Arch Dis Child. 2010 Jun;95(6):458-63. doi: 10.1136/adc.2009.157693. Epub 2010 Apr 6. Arch Dis Child. 2010. PMID: 20371592 Review.
Overgrowth presenting at birth requires blood glucose monitoring while a cause is sought. Among older children presenting with tall stature, common causes such as familial tall stature and simple obesity must be distinguished from rarer endocrine and genetic causes. …
Overgrowth presenting at birth requires blood glucose monitoring while a cause is sought. Among older children presenting with tall s …
47,XYY syndrome: clinical phenotype and timing of ascertainment.
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. Bardsley MZ, et al. J Pediatr. 2013 Oct;163(4):1085-94. doi: 10.1016/j.jpeds.2013.05.037. Epub 2013 Jun 27. J Pediatr. 2013. PMID: 23810129 Free PMC article.
There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic differences were seen in boys diagnosed prenatally vs postnatally. ...Prenatally diagnosed boys scored significantly better on cognitive testing …
There was testicular enlargement for age (>2 SD) in 41/82 (50%), but no increase in genital anomalies. No physical phenotypic diff …
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J. Lui JC, et al. J Clin Endocrinol Metab. 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. J Clin Endocrinol Metab. 2024. PMID: 37450557 Review.
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalit …
Human overgrowth disorders are characterized by excessive prenatal and/or postnatal growth of various tissues. These disorders often present …
Metabolic and cardiovascular risk factors in Klinefelter syndrome.
Spaziani M, Radicioni AF. Spaziani M, et al. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):334-343. doi: 10.1002/ajmg.c.31792. Epub 2020 May 26. Am J Med Genet C Semin Med Genet. 2020. PMID: 32452627 Review.
Klinefelter syndrome (KS), which normally presents with a 47,XXY karyotype, is the most common sex chromosome disorder in males. It is also the most common genetic cause of male infertility. KS subjects are typically tall, with small and firm testes, gynecomastia, b …
Klinefelter syndrome (KS), which normally presents with a 47,XXY karyotype, is the most common sex chromosome disorder in males. It i …
Evaluation of Children and Adolescents with Obesity.
Khadilkar V, Shah N. Khadilkar V, et al. Indian J Pediatr. 2021 Dec;88(12):1214-1221. doi: 10.1007/s12098-021-03893-4. Epub 2021 Aug 18. Indian J Pediatr. 2021. PMID: 34406593 Review.
Waist circumference is another important predictor of pediatric obesity-related comorbidities and is also a component to define metabolic syndrome. Tall and obese children usually have primary obesity, and short and obese children require further evaluation for endo …
Waist circumference is another important predictor of pediatric obesity-related comorbidities and is also a component to define metabolic …
Genetic investigation of patients with tall stature.
Vasco de Albuquerque Albuquerque E, Ferreira de Assis Funari M, Pereira de Souza Quedas E, Sayuri Honjo Kawahira R, Soares Jallad R, Homma TK, Martin RM, Brito VN, Malaquias AC, Lerario AM, Rosenberg C, Victorino Krepischi AC, Ae Kim C, Arnhold IJP, Jorge AAL. Vasco de Albuquerque Albuquerque E, et al. Eur J Endocrinol. 2020 Feb;182(2):139-147. doi: 10.1530/EJE-19-0785. Eur J Endocrinol. 2020. PMID: 31751304
OBJECTIVE: To assess prospectively a group of individuals with tall stature, with and without syndromic features, and to establish a molecular diagnosis for their growth disorder. ...CONCLUSION: A systematic molecular approach of patients with tall stature wa …
OBJECTIVE: To assess prospectively a group of individuals with tall stature, with and without syndromic features, and to estab …
Chromosomal variants in klinefelter syndrome.
Frühmesser A, Kotzot D. Frühmesser A, et al. Sex Dev. 2011;5(3):109-23. doi: 10.1159/000327324. Epub 2011 Apr 29. Sex Dev. 2011. PMID: 21540567 Free article. Review.
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small teste …
Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every …
The NF1 microdeletion syndrome: early genetic diagnosis facilitates the management of a clinically defined disease.
Kehrer-Sawatzki H, Bäzner U, Krämer J, Lewerenz J, Pfeiffer C. Kehrer-Sawatzki H, et al. J Dtsch Dermatol Ges. 2022 Mar;20(3):273-277. doi: 10.1111/ddg.14707. Epub 2022 Mar 4. J Dtsch Dermatol Ges. 2022. PMID: 35246941 Review.
Patients with NF1 microdeletions frequently exhibit facial dysmorphic features and a tall stature as rather specific clinical signs. Furthermore, cutaneous and subcutaneous neurofibromas present at an early age, severe global developmental delay and cognitive disability ar …
Patients with NF1 microdeletions frequently exhibit facial dysmorphic features and a tall stature as rather specific clinical signs. …
Pitfalls in Electrocardiographic Diagnosis of Acute Coronary Syndrome in Low-Risk Chest Pain.
Tewelde SZ, Mattu A, Brady WJ Jr. Tewelde SZ, et al. West J Emerg Med. 2017 Jun;18(4):601-606. doi: 10.5811/westjem.2017.1.32699. Epub 2017 Apr 17. West J Emerg Med. 2017. PMID: 28611879 Free PMC article. Review.
Less than half of patients with a chest pain history indicative of acute coronary syndrome have a diagnostic electrocardiogram (ECG) on initial presentation to the emergency department. ...ECG abnormalities, however subtle, should give pause and merit careful inspec …
Less than half of patients with a chest pain history indicative of acute coronary syndrome have a diagnostic electrocardiogram (ECG) …
61 results