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1956 2
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1968 5
1969 14
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1971 30
1972 26
1973 16
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31,860 results

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Quoted phrase not found in phrase index: "Aplasia cutis-myopia syndrome"
Page 1
The trisomy 18 syndrome.
Cereda A, Carey JC. Cereda A, et al. Orphanet J Rare Dis. 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. Orphanet J Rare Dis. 2012. PMID: 23088440 Free PMC article. Review.
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. ...The recognizable syndrome pattern consists of major and minor anom …
The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chro …
Hemangioma-related syndromes.
Valdebran M, Wine Lee L. Valdebran M, et al. Curr Opin Pediatr. 2020 Aug;32(4):498-505. doi: 10.1097/MOP.0000000000000925. Curr Opin Pediatr. 2020. PMID: 32692048 Review.
The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMBAR syndrome. ...Segmental hemangiomas of the head and neck region may indicate a risk of PHACE syndrome and associated develop …
The current review will discuss recent clinical advances in syndromes associated with segmental hemangiomas, including PHACE and LUMB …
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 Free PMC article. Review.
These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional phenotypic abnormalities such as intellectual disability and increased cancer risk. As the genetic etiology of these disorders have bee …
These disorders often present with tall stature, macrocephaly, and/or abdominal organomegaly and are sometimes associated with additional ph …
Etiologies of uterine malformations.
Jacquinet A, Millar D, Lehman A. Jacquinet A, et al. Am J Med Genet A. 2016 Aug;170(8):2141-72. doi: 10.1002/ajmg.a.37775. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27273803 Review.
Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and …
Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Throu …
Sclerodermalike syndromes: Great imitators.
Varjú C, Kumánovics G, Czirják L, Matucci-Cerinic M, Minier T. Varjú C, et al. Clin Dermatol. 2020 Mar-Apr;38(2):235-249. doi: 10.1016/j.clindermatol.2019.10.010. Epub 2019 Oct 24. Clin Dermatol. 2020. PMID: 32513403
Sclerodermalike syndromes (SLSs) comprise diseases with mucin deposition (eg, scleromyxedema, scleredema), with eosinophilia (eg, eosinophilic fasciitis), metabolic or biochemical abnormalities (eg, nephrogenic systemic fibrosis), or endocrine disorders (eg, POEMS …
Sclerodermalike syndromes (SLSs) comprise diseases with mucin deposition (eg, scleromyxedema, scleredema), with eosinophilia (eg, eos …
Significance of mitochondria on cardiometabolic syndromes.
Anupama N, Sindhu G, Raghu KG. Anupama N, et al. Fundam Clin Pharmacol. 2018 Aug;32(4):346-356. doi: 10.1111/fcp.12359. Epub 2018 May 3. Fundam Clin Pharmacol. 2018. PMID: 29453877 Review.
Metabolic syndromes (MS) are a cluster of disorders such as obesity, hypertension, dyslipidemia, and diabetes. Cardiometabolic syndrome (CMS), a branch of MS, is a group of diseases affecting cardiovascular, renal, metabolic, prothrombotic, and inflammatory abnor …
Metabolic syndromes (MS) are a cluster of disorders such as obesity, hypertension, dyslipidemia, and diabetes. Cardiometabolic syn …
Syndromes with gingival fibromatosis: A systematic review.
Costa CRR, Braz SV, de Toledo IP, Martelli-Júnior H, Mazzeu JF, Guerra ENS, Coletta RD, Acevedo AC. Costa CRR, et al. Oral Dis. 2021 May;27(4):881-893. doi: 10.1111/odi.13369. Epub 2020 May 25. Oral Dis. 2021. PMID: 32335995 Review.
RESULTS: Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal syndrome was the most frequently reported syndrome with GF, represented by 54 individuals in 19 studies, followed by Zimmermann-Laban …
RESULTS: Eighty-four studies reporting GF as an oral manifestation of a syndrome were identified in this review. Enamel renal synd …
Syndromes with cephaloceles.
Cohen MM Jr, Lemire RJ. Cohen MM Jr, et al. Teratology. 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. Teratology. 1982. PMID: 7101196
Encephaloceles may occur as isolated malformations or together with other anomalies making up various syndromes or associations. With the possible exception of the aberrant tissue band syndrome and the Meckel syndrome, little attention has been paid to syn …
Encephaloceles may occur as isolated malformations or together with other anomalies making up various syndromes or associations. With …
Joubert syndrome: a review.
Saraiva JM, Baraitser M. Saraiva JM, et al. Am J Med Genet. 1992 Jul 1;43(4):726-31. doi: 10.1002/ajmg.1320430415. Am J Med Genet. 1992. PMID: 1341417 Review.
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria for this syndrome and present the data available in 94 patients that fulfill our criteria. ...
We review 72 previously reported and 29 new patients with the possible diagnosis of Joubert syndrome. We define diagnostic criteria f …
Survival Trends and Syndromic Esophageal Atresia.
Tan Tanny SP, Beck C, King SK, Hawley A, Brooks JA, McLeod E, Hutson JM, Teague WJ. Tan Tanny SP, et al. Pediatrics. 2021 May;147(5):e2020029884. doi: 10.1542/peds.2020-029884. Pediatrics. 2021. PMID: 33911029
Aside from lethal non-VACTERL syndromes, patients with nonlethal non-VACTERL syndromes (HR 6.85, 95% CI: 3.50-13.41) and VACTERL syndrome (HR 3.02, 95% CI: 1.66-5.49) had a higher risk of death than those with nonsyndromic EA. CONCLUSIONS: Survival of patient …
Aside from lethal non-VACTERL syndromes, patients with nonlethal non-VACTERL syndromes (HR 6.85, 95% CI: 3.50-13.41) and VACTE …
31,860 results
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