Gonadal mosaicism and non-invasive prenatal diagnosis for "reassurance" in sporadic paternal age effect (PAE) disorders

Gonadal mosaicism and non-invasive prenatal diagnosis for "reassurance" in sporadic paternal age effect (PAE) disorders

Бусад хувилбаруудыг харуулах (1)

<p>Non-invasive prenatal diagnosis (NIPD) holds great promise to increase the options for women seeking prenatal testing, as it combines the benefits of earlier sampling in pregnancy with absence of procedure-related risk to the fetus...</p>

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	Goriely, A, Wilkie, A
Формат:	Journal article
Хэвлэсэн:	Wiley 2017

Ижил төстэй зүйлс

Gonadal mosaicism and non‐invasive prenatal diagnosis for ‘reassurance’ in sporadic paternal age effect (PAE) disorders
-н: Wilkie, AOM, зэрэг
Хэвлэсэн: (2017)

Prenatal diagnosis of recurrent autosomal dominant osteogenesis imperfecta associated with unaffected parents and paternal gonadal mosaicism
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2013-03-01)

Missing heritability: paternal age effect mutations and selfish spermatogonia.
-н: Goriely, A, зэрэг
Хэвлэсэн: (2010)

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.
-н: Goriely, A, зэрэг
Хэвлэсэн: (2012)

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
-н: Goriely, A, зэрэг
Хэвлэсэн: (2010)

Selfish mutations in Spermatogenesis and paternal age effects
-н: Wilkie, A, зэрэг
Хэвлэсэн: (2010)

Construct and factorial validity of Neurobehavioral Disorder associated with Prenatal Alcohol Exposure (ND-PAE)
-н: James Ladell Sanders, зэрэг
Хэвлэсэн: (2020-05-01)

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders.
-н: Goriely, A, зэрэг
Хэвлэсэн: (2013)

The effect of prenatal alcohol exposure (PAE) on the onset of speech disorders and communication problems in children and adolescents
-н: Anna Gryc, зэрэг
Хэвлэсэн: (2022-11-01)

Prenatal diagnosis of trisomy 8 mosaicism
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2012-12-01)

Prenatal diagnosis of mosaic trisomy 9
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2011-12-01)

Prenatal diagnosis of mosaic tetrasomy 18p
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2012-12-01)

Genetic counseling of mosaic and non-mosaic tetrasomy 9p at prenatal diagnosis
-н: Chih-Ping Chen
Хэвлэсэн: (2024-09-01)

Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13
-н: Chih-Ping Chen
Хэвлэсэн: (2010-03-01)

Prenatal diagnosis of low-level trisomy 3 mosaicism
-н: Wenjuan Tang, зэрэг
Хэвлэсэн: (2017-02-01)

Prenatal diagnosis of mosaic trisomy 2 and literature review
-н: Ting Wang, зэрэг
Хэвлэсэн: (2020-08-01)

Prenatal Diagnosis and Molecular Analysis of Trisomy 13 Mosaicism
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2009-09-01)

Carer's perception of and reaction to reassurance seeking in obsessive compulsive disorder
-н: Kobori, O, зэрэг
Хэвлэсэн: (2017)

The Effect of Advanced Paternal Age on Genetic Risks Is Mediated through Dysregulation of HRAS Signalling in the Testis.
-н: Goriely, A, зэрэг
Хэвлэсэн: (2011)

Paes Go Sebagai Aplikasi Paes Pengantin Solo Putri
-н: Ade Novi Nurul Ihsani, зэрэг
Хэвлэсэн: (2021-07-01)

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism
-н: Joanna Goes Castro Meira, зэрэг
Хэвлэсэн: (2018-09-01)

Chronic-phase chronic myeloid leukemia: Not always a reassuring diagnosis
-н: Ester M. Orlandi, зэрэг
Хэвлэсэн: (2015-01-01)

Inconsistency between non-invasive prenatal testing (NIPT) and conventional prenatal diagnosis due to confined placental and fetal mosaicism: Two case reports
-н: Kyung Min Kang, зэрэг
Хэвлэсэн: (2022-12-01)

Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics
-н: Laurence Pacot, зэрэг
Хэвлэсэн: (2024-09-01)

Prenatal Diagnosis of Trisomy 8 Mosaicism: A Case Report
-н: Miğraci Tosun, зэрэг
Хэвлэсэн: (2008-08-01)

Prenatal diagnosis of mosaic trisomy 12 associated with congenital overgrowth
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2013-09-01)

Maternal and paternal attachment levels in the prenatal period
-н: Meltem Uğurlu, зэрэг
Хэвлэсэн: (2023-09-01)

The impact of paternal age on new mutations and disease in the next generation
-н: Wood, KA, зэрэг
Хэвлэсэн: (2022)

The impact of paternal age on new mutations and disease in the next generation
-н: Wood, KA, зэрэг
Хэвлэсэн: (2023)

Anita Paes Barreto

Anita Paes Barreto

Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants
-н: Zainab Al Masseri, зэрэг
Хэвлэсэн: (2022-06-01)

Reassurance: medically unexplained physical symptoms.
-н: Bill Anderson
Хэвлэсэн: (2006-12-01)

Advanced paternal age effects in neurodevelopmental disorders-review of potential underlying mechanisms
-н: Janecka, M, зэрэг
Хэвлэсэн: (2017)

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders
-н: Cutts, A, зэрэг
Хэвлэсэн: (2019)

Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array
-н: Lili Zhou, зэрэг
Хэвлэсэн: (2023-07-01)

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2010-09-01)

Mosaicism in carrier of Duchenne muscular dystrophy mutation – Implication for prenatal diagnosis
-н: Linh Thuy Dinh, зэрэг
Хэвлэсэн: (2018-12-01)

Prenatal diagnosis of mosaic trisomy 8: Clinical report and literature review
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2011-09-01)

Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin
-н: Chih-Ping Chen, зэрэг
Хэвлэсэн: (2021-07-01)