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Results 1 to 25 of 76

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LAPS Syndrome and Myhre Syndrome : Two Disorders or One?LINDOR, Noralane M.American journal of medical genetics. Part A. 2009, Vol 149, Num 4, pp 798-799, issn 1552-4825, 2 p.Article

Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndromeLINDOR, Noralane M; BRISTOW, James.American journal of medical genetics. 2005, Vol 135A, Num 1, pp 75-80, issn 0148-7299, 6 p.Article

Lynch Syndrome and MYH-Associated Polyposis: Review and Testing StrategyGOODENBERGER, Mckinsey; LINDOR, Noralane M.Journal of clinical gastroenterology. 2011, Vol 45, Num 6, pp 488-500, issn 0192-0790, 13 p.Article

Germline Duplication of Chromosomes 10p15.3 and Yp11.32 in a Man With Learning Disability and Early Onset Cutaneous Malignant MelanomaMIHCI, Ercan; LINDOR, Noralane M.American journal of medical genetics. Part A. 2008, Vol 146, Num 17, pp 2298-2300, issn 1552-4825, 3 p.Article

Bifid Tongue, Corneal Clouding, and Dandy―Walker Malformation in a Male Infant With Otopalatodigital Syndrome Type 2MURPHY-RYAN, Maureen; BABOVIC-VUKSANOVIC, Dusica; LINDOR, Noralane et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 855-859, issn 1552-4825, 5 p.Article

Lower Gastrointestinal Tract Cancer Predisposition SyndromesSHAH, Neel B; LINDOR, Noralane M.Hematology/oncology clinics of North America. 2010, Vol 24, Num 6, issn 0889-8588, xi, 1229-1252 [25 p.]Article

Identification and Management of Women With BRCA Mutations or Hereditary Predisposition for Breast and Ovarian CancerPRUTHI, Sandhya; GOSTOUT, Bobbie S; LINDOR, Noralane M et al.Mayo Clinic proceedings. 2010, Vol 85, Num 12, pp 1111-1120, issn 0025-6196, 10 p.Article

Heterozygous Niemann-Pick disease type C presenting with tremorJOSEPHS, Keith A; MATSUMOTO, Joseph Y; LINDOR, Noralane M et al.Neurology. 2004, Vol 63, Num 11, pp 2189-2190, issn 0028-3878, 2 p.Article

Multiple primary tumors associated with chromosome 9p deletionLINDOR, Noralane M; JALAL, Syed M; KUMAR, Seema et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 1, pp 95-97, issn 1552-4825, 3 p.Article

Chronic Tibial Nonunion in a Rothmund—Thomson Syndrome PatientCARLSON, Aaron M; THOMAS, Kristen B; KIRMANI, Salman et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 9, pp 2250-2253, issn 1552-4825, 4 p.Article

Nonmosaic smallest duplication of 12q24.31-qter: The first reported caseWON IRELAND, Julie; JALAL, Syed M; MCGRANN, Pamela S et al.American journal of medical genetics. 2004, Vol 128A, Num 3, pp 305-310, issn 0148-7299, 6 p.Article

Unilateral Lisch nodules in the absence of other features of neurofibromatosis 1LAL, Garima; LEAVITT, Jacqueline A; LINDOR, Noralane M et al.American journal of ophthalmology. 2003, Vol 135, Num 4, pp 567-568, issn 0002-9394, 2 p.Article

Hereditary Hemorrhagic Telangiectasia and Risks for Adverse Pregnancy OutcomesWAIN, Karen; SWANSON, Karen; WATSON, William et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 8, pp 2009-2014, issn 1552-4825, 6 p.Article

Birt-Hogg-Dube Syndrome: an autosomal dominant disorder with predisposition to cancers of the kidney, fibrofolliculomas, and focal cutaneous mucinosisLINDOR, Noralane M; HAND, Jennifer; BURCH, Patrick A et al.International journal of dermatology. 2001, Vol 40, Num 10, pp 653-656, issn 0011-9059Article

Slender Bone Dysplasia (Gracile)NYHOLM, Jessica L; LINDOR, Noralane M; THOMAS, Kristen B et al.American journal of medical genetics. Part A. 2008, Vol 146, Num 24, pp 3234-3236, issn 1552-4825, 3 p.Article

LEOPARD syndrome: A new polyaneurysm association and an update on the molecular genetics of the diseaseYAGUBYAN, Marineh; PANNETON, Jean M; LINDOR, Noralane M et al.Journal of vascular surgery. 2004, Vol 39, Num 4, pp 897-900, issn 0741-5214, 4 p.Article

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers : A consortium of investigators of modifiers of BRCA1/2 studyCOUCH, Fergus J; SINILNIKOVA, Olga; PEOCK, Susan et al.Cancer epidemiology, biomarkers & prevention. 2007, Vol 16, Num 7, pp 1416-1421, issn 1055-9965, 6 p.Article

Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutationBOEVE, Bradley F; TREMONT-LUKATS, Ivo W; KOPPIKAR, Vinaya et al.Brain. 2005, Vol 128, pp 752-772, issn 0006-8950, 21 p., 4Article

Pelvic primitive neuroectodermal tumor associated with a cluster of small round cell tumors: case report and review of current literatureGOSTOUT, Bobbie S; LINDOR, Noralane M; DIMARCO, Connie S et al.Gynecologic oncology (Print). 2003, Vol 91, Num 1, pp 247-253, issn 0090-8258, 7 p.Article

Familial adenomatous polyposis and mental retardation caused by a de novo chromosomal deletion at 5q15-q22 : Report of a caseFINCH, Robert; MOORE, Harvey G; LINDOR, Noralane et al.Diseases of the colon & rectum. 2005, Vol 48, Num 11, pp 2148-2152, issn 0012-3706, 5 p.Article

Variants on 9p24 and 8q24 Are Associated with Risk of Colorectal Cancer : Results from the Colon Cancer Family RegistryPOYNTER, Jenny N; FIGUEIREDO, Jane C; BYRNES, Graham B et al.Cancer research (Baltimore). 2007, Vol 67, Num 23, pp 11128-11132, issn 0008-5472, 5 p.Article

Application of multicolor fluorescent in situ hybridization for enhanced characterization of chromosomal abnormalities in congenital disordersJALAL, Syed M; LAW, Mark E; LINDOR, Noralane M et al.Mayo Clinic proceedings. 2001, Vol 76, Num 1, pp 16-21, issn 0025-6196Conference Paper

A Case of Down Syndrome With Mirror-image Duplication of Chromosome 21MINH THI, Ha Thi; VIET NHAN, Nguyen; LINDOR, Noralane M et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 6, pp 1580-1582, issn 1552-4825, 3 p.Article

Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing ageKAKAR, Sanjay; BURGART, Lawrence J; THIBODEAU, Stephen N et al.Cancer. 2003, Vol 97, Num 6, pp 1421-1427, issn 0008-543X, 7 p.Article

Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorderWISE, Carol A; GILLUM, Joseph D; SEIDMAN, Christine E et al.Human molecular genetics (Print). 2002, Vol 11, Num 8, pp 961-969, issn 0964-6906Article

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