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  • 1-10 of  38 results for ""Schaefer FV""
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Academic Journal

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease.

  • Authors : Guo DC; The Department of Internal Medicine, The University of Texas Medical School at Houston, 6431 Fannin, MSB 6.100, Houston, TX, 77030, USA.; Gupta P

Subjects: Exons/Exons/Exons/*genetics ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics ; Microfilament Proteins/Microfilament Proteins/Microfilament Proteins/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2008; Vol. 53 (11-12), pp. 1007-1011. Date of Electronic Publication: 2008 Sep 17.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

  • Authors : Schafer AL; Department of Medicine, University of California, San Francisco, CA, USA; Endocrine Research Unit, Department of Veterans Affairs Medical Center, San Francisco, CA, USA.

Subjects: Mutation*; Fibrous Dysplasia of Bone/Fibrous Dysplasia of Bone/Fibrous Dysplasia of Bone/*complications ; Mandibular Neoplasms/Mandibular Neoplasms/Mandibular Neoplasms/*complications

  • Source: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research [J Bone Miner Res] 2014 Apr; Vol. 29 (4), pp. 911-21.Publisher: American Society for Bone and Mineral Research Country of Publication: United States NLM ID: 8610640 Publication Model: Print Cited Medium:

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Academic Journal

Pseudohypoparathyroidism type 1a with congenital hypothyroidism.

  • Authors : Pinsker JE; Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA. ; Rogers W

Subjects: Congenital Hypothyroidism/Congenital Hypothyroidism/Congenital Hypothyroidism/*genetics ; GTP-Binding Protein alpha Subunits, Gs/GTP-Binding Protein alpha Subunits, Gs/GTP-Binding Protein alpha Subunits, Gs/*genetics ; Pseudohypoparathyroidism/Pseudohypoparathyroidism/Pseudohypoparathyroidism/*genetics

  • Source: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2006 Aug; Vol. 19 (8), pp. 1049-52.Publisher: Walter de Gruyter Country of Publication: Germany NLM ID: 9508900 Publication Model: Print Cited Medium: Print ISSN: 0334-018X (Print)

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Academic Journal

Genetically characterized positive control cell lines derived from residual clinical blood samples.

  • Authors : Bernacki SH; Department of Pathology, Duke University Medical Center, Durham, NC, USA.; Beck JC

Subjects: Blood Specimen Collection* ; Cell Line, Transformed* ; Herpesvirus 4, Human*

  • Source: Clinical chemistry [Clin Chem] 2005 Nov; Vol. 51 (11), pp. 2013-24. Date of Electronic Publication: 2005 Sep 15.Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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Academic Journal

Characterization of publicly available lymphoblastoid cell lines for disease-associated mutations in 11 genes.

  • Authors : Bernacki SH; Department of Pathology, Duke University Medical Center, Durham, NC, USA.; Beck JC

Subjects: Cell Line, Transformed* ; Mutation*; Genetic Diseases, Inborn/Genetic Diseases, Inborn/Genetic Diseases, Inborn/*genetics

  • Source: Clinical chemistry [Clin Chem] 2005 Nov; Vol. 51 (11), pp. 2156-9.Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Print ISSN: 0009-9147

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Academic Journal

Analyses of polymorphism for UGT1*1 exon 1 promoter in neonates with pathologic and prolonged jaundice.

  • Authors : Ulgenalp A; Department of Pediatric Genetics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey.; Duman N

Subjects: Polymorphism, Genetic*; Exons/Exons/Exons/*genetics ; Glucuronosyltransferase/Glucuronosyltransferase/Glucuronosyltransferase/*genetics

  • Source: Biology of the neonate [Biol Neonate] 2003; Vol. 83 (4), pp. 258-62.Publisher: Karger Country of Publication: Switzerland NLM ID: 0247551 Publication Model: Print Cited Medium: Print ISSN: 0006-3126 (Print)

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Academic Journal

Clinical expression of myotonic dystrophy: the predictive role of DNA diagnosis.

  • Authors : Can B; Chapman Institute of Medical Genetics, Tulsa, Oklahoma 74135, USA.; Schaefer FV

Subjects: Polymerase Chain Reaction*; DNA/DNA/DNA/*genetics ; Myotonic Dystrophy/Myotonic Dystrophy/Myotonic Dystrophy/*diagnosis

  • Source: The Journal of the Oklahoma State Medical Association [J Okla State Med Assoc] 1998 Jan-Feb; Vol. 91 (1), pp. 7-10.Publisher: Oklahoma State Medical Association Country of Publication: United States NLM ID: 7503043 Publication Model: Print Cited Medium: Print

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Academic Journal

Genetic factors for the development of Alzheimer disease in the Cherokee Indian.

  • Authors : Rosenberg RN; Department of Neurology, University of Texas Southwestern Medical Center at Dallas, USA.; Richter RW

Subjects: Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics ; Indians, North American/Indians, North American/Indians, North American/*genetics; Aged

  • Source: Archives of neurology [Arch Neurol] 1996 Oct; Vol. 53 (10), pp. 997-1000.Publisher: American Medical Assn Country of Publication: United States NLM ID: 0372436 Publication Model: Print Cited Medium: Print ISSN:

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  • 1-10 of  38 results for ""Schaefer FV""