Molecular studies of the fragile X syndrome.

Molecular studies of the fragile X syndrome.

We have studied families segregating for the fragile X syndrome for the presence of amplification of the CGG repeat sequence adjacent to the HpaII Tiny Fragment (HTF) island in the FMR-1 gene. We demonstrate that 138/143 fragile X positive, mentally retarded males show a characteristic smear of frag...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Knight, S, Hirst, M, Roche, A, Christodoulou, Z, Huson, S, Winter, R, Fitchett, M, McKinley, M, Lindenbaum, R, Nakahori, Y
Формат:	Journal article
Хэл сонгох:	English
Хэвлэсэн:	1992

Ижил төстэй зүйлс

Genotype prediction in the fragile X syndrome.
-н: Hirst, M, зэрэг
Хэвлэсэн: (1991)

Molecular heterogeneity of the fragile X syndrome.
-н: Nakahori, Y, зэрэг
Хэвлэсэн: (1991)

Molecular analysis of the fragile X syndrome.
-н: Knight, S, зэрэг
Хэвлэсэн: (1992)

Origins of the fragile X syndrome mutation.
-н: Hirst, M, зэрэг
Хэвлэсэн: (1993)

Prenatal diagnosis of fragile X syndrome.
-н: Hirst, M, зэрэг
Хэвлэсэн: (1991)

The fragile X syndrome.
-н: Flannery, A, зэрэг
Хэвлэсэн: (1995)

The fragile X syndrome.
-н: Hirst, M, зэрэг
Хэвлэсэн: (1992)

A YAC CONTIG ACROSS THE FRAGILE-X REGION DERIVED FROM CHROMOSOME MICRODISSECTION MARKERS
-н: Hirst, M, зэрэг
Хэвлэсэн: (1991)

Linear order of new and established DNA markers around the fragile site at Xq27.3.
-н: Hirst, M, зэрэг
Хэвлэсэн: (1991)

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies
-н: Faundez, V, зэрэг
Хэвлэсэн: (2018)

The molecular basis of the Fragile X syndrome
-н: Harem Othman smail
Хэвлэсэн: (2023-05-01)

Molecular Biomarkers in Fragile X Syndrome
-н: Marwa Zafarullah, зэрэг
Хэвлэсэн: (2019-04-01)

Síndrome frágil X Fragile X syndrome
-н: Miguel Lugones Botell, зэрэг
Хэвлэсэн: (2006-09-01)

Síndrome frágil X Fragile X Syndrome
Хэвлэсэн: (2007-03-01)

Experiences of the Molecular Diagnosis of Fragile X Syndrome in Ecuador
-н: Juan Pozo-Palacios, зэрэг
Хэвлэсэн: (2021-12-01)

Fragile X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (1987-11-01)

Fragile-X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (1988-03-01)

Pathological Plasticity in Fragile X Syndrome
-н: Brandon S. Martin, зэрэг
Хэвлэсэн: (2012-01-01)

Diagnosis of fragile X syndrome by using cytogenetic and molecular approach
-н: Tan, Suat Cheng
Хэвлэсэн: (2007)

Cytogenetic and Molecular Investigation in Children with Possible Fragile X Syndrome
-н: Onur Ozer, зэрэг
Хэвлэсэн: (2012-04-01)

Fragile X syndrome: a review of clinical and molecular diagnoses
-н: Claudia Ciaccio, зэрэг
Хэвлэсэн: (2017-04-01)

Psychopathology in Fragile X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (1989-02-01)

Fragile X Syndrome Recognition
-н: J Gordon Millichap
Хэвлэсэн: (1989-02-01)

Neuroanatomy of Fragile X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (1991-02-01)

Diagnosis of Fragile X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (1991-12-01)

Epilepsy and Fragile X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (2003-01-01)

Fragile X Syndrome Workshop
-н: J Gordon Millichap
Хэвлэсэн: (2000-10-01)

Astrocytes in fragile X syndrome
-н: Karo Talvio, зэрэг
Хэвлэсэн: (2024-01-01)

Screening for fragile X syndrome.
-н: Murray, зэрэг
Хэвлэсэн: (1997-01-01)

Rett Syndrome and Fragile X Syndrome: Different Etiology With Common Molecular Dysfunctions
-н: Snow Bach, зэрэг
Хэвлэсэн: (2021-11-01)

Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues
-н: Diana A. Abbasi, зэрэг
Хэвлэсэн: (2024-05-01)

Intercorrelation of Molecular Biomarkers and Clinical Phenotype Measures in Fragile X Syndrome
-н: Ramkumar Aishworiya, зэрэг
Хэвлэсэн: (2023-07-01)

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
-н: Flynn, G, зэрэг
Хэвлэсэн: (1993)

Clinical and molecular correlates in fragile X premutation females
-н: Poonnada Jiraanont, зэрэг
Хэвлэсэн: (2017-06-01)

Sensory Processing Phenotypes in Fragile X Syndrome
-н: Maham Rais, зэрэг
Хэвлэсэн: (2018-09-01)

Editorial: Recent advances in mechanisms and therapeutics for Fragile X Syndrome and autism
-н: Gemma Molinaro, зэрэг
Хэвлэсэн: (2023-05-01)

Molecular characterization of X chromosome fragility in idiopathic mental retardation
-н: Heba Alla Hosny Omar, зэрэг
Хэвлэсэн: (2016-04-01)

Early Diagnosis of Fragile X Syndrome
-н: J Gordon Millichap
Хэвлэсэн: (2003-02-01)

Epigenetic insights into Fragile X Syndrome
-н: Liangqun Xie, зэрэг
Хэвлэсэн: (2024-08-01)

An “Omic” Overview of Fragile X Syndrome
-н: Olivier Dionne, зэрэг
Хэвлэсэн: (2021-05-01)