Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
about
Advances in the treatment of fragile X syndromeThe FMR1 gene, infertility, and reproductive decision-making: a reviewLongitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserveElevated prevalence of 35-44 FMR1 trinucleotide repeats in women with diminished ovarian reserveComprehensive neurocognitive endophenotyping strategies for mouse models of genetic disordersA review of fragile X premutation disorders: expanding the psychiatric perspectiveBroad clinical involvement in a family affected by the fragile X premutation.Climbing the branches of a family tree: diagnosis of fragile X syndrome.Dementia in fragile X-associated tremor/ataxia syndrome (FXTAS): comparison with Alzheimer's disease.Fragile X and autism: Intertwined at the molecular level leading to targeted treatments.PSYCHIATRIC DISORDERS ASSOCIATED WITH FXTAS.Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiencyCaregiver opinions about fragile X population screening.Carrier screening in preconception consultation in primary care.EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders"It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.A systematic review of population screening for fragile X syndrome.What is the role of genetic testing in movement disorders practice?Increased frequency of occult fragile X-associated primary ovarian insufficiency in infertile women with evidence of impaired ovarian function.Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions.Newborn screening and cascade testing for FMR1 mutations.Fragile X syndromeFragile X syndrome
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P2860
Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
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2007年學術文章
@zh-hant
name
Recommendations from multi-dis ...... ragile X-associated disorders.
@en
Recommendations from multi-dis ...... ragile X-associated disorders.
@nl
type
label
Recommendations from multi-dis ...... ragile X-associated disorders.
@en
Recommendations from multi-dis ...... ragile X-associated disorders.
@nl
prefLabel
Recommendations from multi-dis ...... ragile X-associated disorders.
@en
Recommendations from multi-dis ...... ragile X-associated disorders.
@nl
P2093
P1476
Recommendations from multi-dis ...... ragile X-associated disorders.
@en
P2093
Ajay Vatave
Allyn McConkie-Rosell
Amy Cronister
Brenda Finucane
David Hessl
Elizabeth Berry-Kravis
Lawrence M Nelson
Liane Abrams
Louise W Gane
Natalie Street
P2860
P304
P356
10.1007/S10897-007-9099-Y
P577
2007-05-12T00:00:00Z