111 results match your criteria Advances In Human Genetics[Journal]


High-resolution replication bands compared with morphologic G- and R-bands.

Adv Hum Genet 1994 ;22:47-115

Division of Biology, Beckman Research Institute of the City of Hope, Duarte, California 91010-0269, USA.

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Nonisotopic in situ hybridization. Clinical cytogenetics and gene mapping applications.

Authors:
M Adinolfi J Crolla

Adv Hum Genet 1994 ;22:187-255

Division of Medical & Molecular Genetics, United Medical School, Guy's Hospitals, London, England.

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Marfan's syndrome and other microfibrillar diseases.

Adv Hum Genet 1994 ;22:153-86

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

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Molecular genetics of Charcot-Marie-Tooth neuropathy.

Authors:
B B Roa J R Lupski

Adv Hum Genet 1994 ;22:117-52

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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Genetic disorders of pigmentation.

Adv Hum Genet 1994 ;22:1-45

Department of Medical Genetics, University of Wisconsin, Madison 53706, USA.

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Genetic mutations affecting human lipoproteins, their receptors, and their enzymes.

Adv Hum Genet 1993 ;21:145-319

Department of Medicine, Housman Medical Research Center, Boston University Medical Center, Massachusetts 02118.

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Gaucher disease. Enzymology, genetics, and treatment.

Authors:
G A Grabowski

Adv Hum Genet 1993 ;21:377-441

Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, Ohio 45229-2899.

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Genetic aspects of cancer.

Adv Hum Genet 1993 ;21:321-76

Imperial Cancer Research Fund, London, England.

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X-linked immunodeficiencies.

Authors:
J M Puck

Adv Hum Genet 1993 ;21:107-44

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia.

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Peroxisomal diseases.

Authors:
H W Moser

Adv Hum Genet 1993 ;21:1-106, 443-51

Kennedy-Krieger Institute, Baltimore, Maryland 21205.

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Genetic aspects of amyloidosis.

Adv Hum Genet 1991 ;20:69-123, 309-11

Medical Service, New York Veterans Affairs Medical Center, New York.

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Huntington's disease.

Authors:
J F Gusella

Adv Hum Genet 1991 ;20:125-51

Department of Genetics, Harvard Medical School, Cambridge, Massachusetts.

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Molecular genetics of von Recklinghausen neurofibromatosis.

Adv Hum Genet 1991 ;20:267-307

Department of Internal Medicine, Howard Hughes Medical Institute, University of Michigan Medical Center, Ann Arbor 18109-0650.

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Biochemical and molecular genetics of cystic fibrosis.

Authors:
L C Tsui M Buchwald

Adv Hum Genet 1991 ;20:153-266, 311-2

Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.

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Oxidative phosphorylation diseases. Disorders of two genomes.

Adv Hum Genet 1990 ;19:267-330

Department of Neurology, Emory University, Atlanta, Georgia 30322.

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Genetic aspects of immunoglobulin A deficiency.

Adv Hum Genet 1990 ;19:235-66

Mount Sinai Hospital, New York, New York 10029.

IgA deficiency is one of the most common of all immune defects. While it is often not associated with clinical illness, presumably due to compensation from other sectors of the immune system, IgA-deficient individuals are distinctly more likely to become ill and have one or more of specific groups of diseases. While the unifying immunologic perturbation in IgA deficiency is a lack of mature IgA-secreting B cells, a host of other, usually minor, immunologic abnormalities have been reported in such patients. Read More

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Structural defects in inherited and giant platelet disorders.

Authors:
J G White

Adv Hum Genet 1990 ;19:133-234

Department of Laboratory Medicine/Pathology, University of Minnesota Medical School, Minneapolis 55455.

As diverse as the group of inherited structural defects and giant platelet disorders presented in this chapter may seem, there is a common thread that ties them together. All appear to represent some form of membrane aberration. Sometimes only a small inclusion identifies the membrane defect, sometimes a massive increase in size. Read More

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Mutations in type I procollagen genes that cause osteogenesis imperfecta.

Adv Hum Genet 1990 ;19:105-32

Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.

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The lethal osteochondrodysplasias.

Adv Hum Genet 1990 ;19:1-103, 331-2

Children's Hospital, University of Mainz, Federal Republic of Germany.

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Chromosome instability syndromes.

Authors:
M M Cohen H P Levy

Adv Hum Genet 1989 ;18:43-149, 365-71

Department of Obstetrics and Gynecology, School of Medicine, University of Maryland, Baltimore.

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A comprehensive and critical assessment of overgrowth and overgrowth syndromes.

Authors:
M M Cohen

Adv Hum Genet 1989 ;18:181-303, 373-6

Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

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Lacticacidemia. Biochemical, clinical, and genetic considerations.

Authors:
B H Robinson

Adv Hum Genet 1989 ;18:151-79, 371-2

Department of Pediatrics, University of Toronto, Ontario, Canada.

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Genetics of growth hormone and its disorders.

Adv Hum Genet 1989 ;18:305-63

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.

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The molecular basis of HLA-disease association.

Adv Hum Genet 1989 ;18:1-41

Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Headington, United Kingdom.

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The molecular genetics of hemophilia A and B in man. Factor VIII and factor IX deficiency.

Authors:
S E Antonarakis

Adv Hum Genet 1988 ;17:27-59

Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

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December 1988

Cloning of the Duchenne/Becker muscular dystrophy locus.

Adv Hum Genet 1988 ;17:61-98

Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115.

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December 1988

Molecular genetics of human salivary proteins and their polymorphisms.

Authors:
E A Azen N Maeda

Adv Hum Genet 1988 ;17:141-99

Department of Medicine, University of Wisconsin, Madison 53706.

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December 1988

Chorionic villus sampling.

Adv Hum Genet 1988 ;17:1-25

Department of Obstetrics and Gynecology, University of California, San Francisco 94143.

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December 1988

Trisomy 21. Molecular and cytogenetic studies of nondisjunction.

Adv Hum Genet 1988 ;17:99-140

University of Michigan Medical Center, Department of Pediatrics, Howard Hughes Medical Institute, Ann Arbor 48109.

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December 1988