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A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
Mighell TL, Evans-Dutson S, O'Roak BJ. Mighell TL, et al. Am J Hum Genet. 2018 May 3;102(5):943-955. doi: 10.1016/j.ajhg.2018.03.018. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706350 Free PMC article.
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD). ...ASD-associated mutations generally had less severe fitness scores relative to PHTS-associated mutatio …
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) …
Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
Boland CR, Idos GE, Durno C, Giardiello FM, Anderson JC, Burke CA, Dominitz JA, Gross S, Gupta S, Jacobson BC, Patel SG, Shaukat A, Syngal S, Robertson DJ. Boland CR, et al. Gastroenterology. 2022 Jun;162(7):2063-2085. doi: 10.1053/j.gastro.2022.02.021. Epub 2022 Apr 26. Gastroenterology. 2022. PMID: 35487791
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN …
The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign an …
Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.
Teramae S, Muguruma N, Okamoto K, Oseto K, Nishikawa R, Tanoue T, Hirata K, Yanai S, Matsumoto T, Shimizu S, Miwa J, Sasaki Y, Yashima K, Ohnuma H, Sato Y, Kitayama Y, Ohda Y, Yamauchi A, Sanomura Y, Tanaka K, Kubo Y, Ishikawa H, Bando Y, Sonoda T, Takayama T. Teramae S, et al. Int J Clin Oncol. 2022 Apr;27(4):639-647. doi: 10.1007/s10147-022-02116-w. Epub 2022 Feb 2. Int J Clin Oncol. 2022. PMID: 35106660
BACKGROUND: Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high risk of cancers. ...The incidence of breast, thyroid, endometrium, and colorectal cancer was 32 …
BACKGROUND: Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characteri …
Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing.
Doxey BW, Kuwada SK, Burt RW. Doxey BW, et al. Clin Gastroenterol Hepatol. 2005 Jul;3(7):633-41. doi: 10.1016/s1542-3565(05)00370-8. Clin Gastroenterol Hepatol. 2005. PMID: 16206494 Review.
The inherited polyposis syndromes are a group of conditions in which multiple gastrointestinal polyps occur in the lumen of the gastrointestinal tract, most exhibit an increased risk of colon cancer. ...In this review, we will focus on familial adenomatous polyposis, mutY …
The inherited polyposis syndromes are a group of conditions in which multiple gastrointestinal polyps occur in the lumen of the gastr …
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Poretti A, et al. Orphanet J Rare Dis. 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. Orphanet J Rare Dis. 2012. PMID: 22236771 Free PMC article.
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). ...Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tong …
Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders ( …
Update on the management of familial central nervous system tumor syndromes.
Hottinger AF, Khakoo Y. Hottinger AF, et al. Curr Neurol Neurosci Rep. 2007 May;7(3):200-7. doi: 10.1007/s11910-007-0031-5. Curr Neurol Neurosci Rep. 2007. PMID: 17488585 Review.
Hereditary central nervous tumor syndromes are a varied group of conditions that include neurofibromatosis type 1 and 2, tuberous sclerosis, Von Hippel-Lindau disease, and Cowden, Turcot, and Gorlin syndromes. The responsible genes have been identified in most of these dis …
Hereditary central nervous tumor syndromes are a varied group of conditions that include neurofibromatosis type 1 and 2, tuberous sclerosis, …
Double balloon enteroscopy in children: diagnosis, treatment, and safety.
Thomson M, Venkatesh K, Elmalik K, van der Veer W, Jaacobs M. Thomson M, et al. World J Gastroenterol. 2010 Jan 7;16(1):56-62. doi: 10.3748/wjg.v16.i1.56. World J Gastroenterol. 2010. PMID: 20039449 Free PMC article.
METHODS: Fourteen patients (10 males) with a median age of 12.9 years (range 8.1-16.7) underwent DBE; 5 for Peutz-Jeghers syndrome (PJ syndrome), 2 for chronic abdominal pain, 4 for obscure gastrointestinal (GI) bleeding, 2 with angiomatous malformations (1 b …
METHODS: Fourteen patients (10 males) with a median age of 12.9 years (range 8.1-16.7) underwent DBE; 5 for Peutz-Jeghers syndrome …
Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases.
Turner JT, Cohen MM Jr, Biesecker LG. Turner JT, et al. Am J Med Genet A. 2004 Oct 1;130A(2):111-22. doi: 10.1002/ajmg.a.30327. Am J Med Genet A. 2004. PMID: 15372514 Review.
The medical care of patients affected by rare disorders depends heavily on experiences garnered from prior cases, including those patients evaluated by the treating physician and those published in the medical literature. ...Only 97 (47.3%) of reported cases met the diagno …
The medical care of patients affected by rare disorders depends heavily on experiences garnered from prior cases, including those pat …
Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex.
Bai D, Zhao J, Li L, Gao J, Wang X. Bai D, et al. Sci China Life Sci. 2017 Jul;60(7):763-771. doi: 10.1007/s11427-017-9091-x. Epub 2017 Jun 14. Sci China Life Sci. 2017. PMID: 28623545
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. ...On magnetic resonance imaging, 18 children exhibited subependymal nodules, and 16 ones …
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic diso …
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.
Kothari C, Srivastava S, Kousa Y, Izem R, Gierdalski M, Kim D, Good A, Dies KA, Geisel G, Morizono H, Gallo V, Pomeroy SL, Garden GA, Guay-Woodford L, Sahin M, Avillach P. Kothari C, et al. J Neurodev Disord. 2022 Mar 23;14(1):24. doi: 10.1186/s11689-022-09434-0. J Neurodev Disord. 2022. PMID: 35321655 Free PMC article.
This article details the validation of a computational phenotype for PTEN hamartoma tumor syndrome (PHTS) against the EHR of patients at three collaborating clinical research centers: Boston Children's Hospital, Children's National Hospital, and the University of Wa …
This article details the validation of a computational phenotype for PTEN hamartoma tumor syndrome (PHTS) against the EHR of p …
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