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Premutation Female Carriers of Fragile X Syndrome: A Pilot Study on Brain Anatomy and Metabolism

Journal of the American Academy of Child and Adolescent Psychiatry, 1999-10, Vol.38 (10), p.1294-1301

1999

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Polymerase chain reaction analysis of fragile X mutations

Human genetics, 1992-09, Vol.90 (1-2), p.55-61

1992

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FMR1 CGG-Repeat Instability in Single Sperm and Lymphocytes of Fragile-X Premutation Males

American journal of human genetics, 1999-09, Vol.65 (3), p.680-688

1999

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RFLP FOR LINKAGE ANALYSIS OF FRAGILE X SYNDROME

The Lancet (British edition), 1987-01, Vol.329 (8527), p.280-280

1987

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Hypothesis regarding the nature of the fragile X mutation: a reply to Winter and Pembrey

Human genetics, 1987-03, Vol.75 (3), p.294-295

1987

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Mosaicism in fragile X affected males

American journal of medical genetics, 1994-07, Vol.51 (4), p.509-512

1994

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Cloning the ends of size selected Sfi I fragments

American journal of medical genetics, 1991-02, Vol.38 (2-3), p.384-390

1991

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Cognitive and molecular aspects of fragile X

Journal of clinical and experimental neuropsychology, 1995-08, Vol.17 (4), p.518-528

1995

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Fragile X screening program in New York State

American journal of medical genetics, 1991-02, Vol.38 (2-3), p.251-255

1991

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γ δ β -Thalassemia Due to a de novo Mutation Deleting the 5′ β -globin Gene Activation-Region Hypersensitive Sites

Proceedings of the National Academy of Sciences - PNAS, 1989-10, Vol.86 (19), p.7470-7474

1989

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Pulsed-field gradient-gel studies around the fragile site

American journal of medical genetics, 1988-05, Vol.30 (1-2), p.593-600

1988

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Fragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic southern blot DNA analyses of the FMR-1 gene

American journal of medical genetics, 1994-07, Vol.51 (4), p.436-442

1994

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Mode of inheritance influences behavioral expression and molecular control of cognitive deficits in female carriers of the fragile X syndrome

American journal of medical genetics, 1992-04, Vol.43 (1-2), p.87-95

1992

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New York State screening program for fragile X syndrome: A progress report

American journal of medical genetics, 1992-04, Vol.43 (1-2), p.328-332

1992

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Polymerase chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis

American journal of medical genetics, 1991-02, Vol.38 (2-3), p.378-379

1991

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Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

American journal of medical genetics, 1996-08, Vol.64 (2), p.296-301

1996

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In situ nick translation of the fragile X region

American journal of medical genetics, 1988-05, Vol.30 (1-2), p.443-450

1988

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Multipoint linkage of 9 anonymous probes to HPRT, factor 9, and fragile X

American journal of medical genetics, 1988-05, Vol.30 (1-2), p.551-566

1988

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Prenatal diagnosis of fragile X syndrome

The Lancet (British edition), 1991-10, Vol.338 (8772), p.956-958

1991

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Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies

American journal of medical genetics, 1999-04, Vol.83 (4), p.342-346

1999

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γδβ-Thalassemia due to a de novo mutation deleting the 5' γ-globin gene activation-region hypersensitive sites

Proceedings of the National Academy of Sciences - PNAS, 1989, Vol.86 (19), p.7470-7474

1989

Volltextzugriff (PDF)

Cloning the ends of size selected SfiI fragments

American journal of medical genetics, 1991-01, Vol.38 (2-3), p.384-390

1991

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Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males

American journal of medical genetics, 1996-08, Vol.64 (2), p.365-369

1996

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Five nucleotide changes in the large intervening sequence of a β globin gene in a β+ thalassemia patient

Nucleic acids research, 1982-02, Vol.10 (4), p.1283-1294

1982

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Polymerae chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis

American journal of medical genetics, 1991, Vol.38 (2-3), p.378-379

1991

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Premutation Female Carriers of Fragile X Syndrome: A Pilot Study on Brain Anatomy and Metabolism

Polymerase chain reaction analysis of fragile X mutations

FMR1 CGG-Repeat Instability in Single Sperm and Lymphocytes of Fragile-X Premutation Males

RFLP FOR LINKAGE ANALYSIS OF FRAGILE X SYNDROME

Hypothesis regarding the nature of the fragile X mutation: a reply to Winter and Pembrey

Mosaicism in fragile X affected males

Cloning the ends of size selected Sfi I fragments

Cognitive and molecular aspects of fragile X

Fragile X screening program in New York State

γ δ β -Thalassemia Due to a de novo Mutation Deleting the 5′ β -globin Gene Activation-Region Hypersensitive Sites

Pulsed-field gradient-gel studies around the fragile site

Fragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic southern blot DNA analyses of the FMR-1 gene

Mode of inheritance influences behavioral expression and molecular control of cognitive deficits in female carriers of the fragile X syndrome

New York State screening program for fragile X syndrome: A progress report

Polymerase chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis

Tissue differences in fragile X mosaics: Mosaicism in blood cells may differ greatly from skin

In situ nick translation of the fragile X region

Multipoint linkage of 9 anonymous probes to HPRT, factor 9, and fragile X

Prenatal diagnosis of fragile X syndrome

Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies

γδβ-Thalassemia due to a de novo mutation deleting the 5' γ-globin gene activation-region hypersensitive sites

Cloning the ends of size selected SfiI fragments

Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males

Five nucleotide changes in the large intervening sequence of a β globin gene in a β+ thalassemia patient

Polymerae chain reaction detection of the Dde I polymorphism in the factor 9 gene for fragile X linkage analysis

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