Evaluation for germline mosaicism in sperm donors following diagnosis of dominant disorders in donor-conceived offspring
K Baldwin, P Callum - Fertility and Sterility, 2019 - fertstert.org
… the same donor. While the cases investigated in this study did not identify any evidence …
gonadal mosaicism, routine evaluation of DNA from sperm cells may help to identify mosaicism …
gonadal mosaicism, routine evaluation of DNA from sperm cells may help to identify mosaicism …
[HTML][HTML] A case of germline mosaicism for a 7q32. 1q33 deletion in a sperm donor: consequences on pregnancy follow-up and recommendations
C Chalas, A Receveur, N Frydman, N Massin… - Basic and Clinical …, 2020 - Springer
… donor, we confirmed the presence of a germline mosaicism in his spermatozoa. This finding
highlights the importance of germline mosaicism … the context of sperm donation, particularly …
highlights the importance of germline mosaicism … the context of sperm donation, particularly …
Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission
… Here, we demonstrate that gonadal mosaic mutations detected in sperm from individual …
the presence of gonadal mosaic mutations identified in one sperm donor in the blastocysts of the …
the presence of gonadal mosaic mutations identified in one sperm donor in the blastocysts of the …
… OF GERMLINE MOSAICISM, NON-PENETRANT DISEASE, AND MORE FOLLOWING DIAGNOSIS OF AUTOSOMAL DOMINANT DISORDERS IN DONOR …
J Park, J Luque, M Cahr, K Baldwin, P Callum - Fertility and Sterility, 2022 - fertstert.org
… ular testing on DNA from semen samples is a significant limitation in the assessment of
germline mosaicism. IMPACT STATEMENT: Germline mosaicism and undiagnosed disease are …
germline mosaicism. IMPACT STATEMENT: Germline mosaicism and undiagnosed disease are …
Clinical presentations of 23 half‐siblings from a mosaic neurofibromatosis type 1 sperm donor
C Ejerskov, S Farholt, F Skovby… - Clinical …, 2016 - Wiley Online Library
… and 1 Icelandic offspring of donor number 7042 of whom … sperm donor with gonosomal
mosaicism for a NF1 deletion. To allow future follow-up, we have initiated The International Donor …
mosaicism for a NF1 deletion. To allow future follow-up, we have initiated The International Donor …
Gonosomal mosaicism for an NF1 deletion in a sperm donor: evidence of the need for coordinated, long-term communication of health information among relevant …
P Callum, LM Messiaen, PV Bower, F Skovby… - Human …, 2012 - academic.oup.com
… mosaicism discovered in an anonymous sperm donor after receiving two reports of
neurofibromatosis type 1 (NF1) in donor-… a significant risk for gonadal mosaicism until the second …
neurofibromatosis type 1 (NF1) in donor-… a significant risk for gonadal mosaicism until the second …
[PDF][PDF] Developmental and temporal characteristics of clonal sperm mosaicism
… We found that gonadal mosaic variants showed significantly distinct mutational patterns (Figures
4B, S5A, and S5B; STAR Methods). For instance, C > G and T > C were depleted in all …
4B, S5A, and S5B; STAR Methods). For instance, C > G and T > C were depleted in all …
[HTML][HTML] Sperm chromosome analysis and outcome of IVF in patients with non-mosaic Klinefelter's syndrome
J Levron, A Aviram-Goldring, I Madgar, G Raviv… - Fertility and sterility, 2000 - Elsevier
… among infertile males undergoing ICSI as compared to fertile donors (16). In other study we
demonstrated a linkage between gonadal failure (high serum FSH levels) and an increased …
demonstrated a linkage between gonadal failure (high serum FSH levels) and an increased …
Sperm mosaicism predicts transmission of de novo mutations to human blastocysts
… Here, we demonstrate that gonadal mosaic mutations detected in sperm from individual …
the presence of gonadal mosaic mutations identified in one sperm donor in the blastocysts of the …
the presence of gonadal mosaic mutations identified in one sperm donor in the blastocysts of the …
[HTML][HTML] De novo mutations, genetic mosaicism and human disease
M Mohiuddin, RF Kooy, CE Pearson - Frontiers in genetics, 2022 - frontiersin.org
… within an individual is termed as germline mosaicism. Germline mosaicism is a driving force
behind … Undoubtedly, this process may additionally be appropriate to sperm donor clinics. …
behind … Undoubtedly, this process may additionally be appropriate to sperm donor clinics. …
相关搜索
- gonosomal mosaicism sperm donor
- neurofibromatosis type germline mosaicism
- paternal germline mosaicism
- familiarity recessivity and germline mosaicism
- autosomal recessive conditions sperm banks
- donor recipient population sperm bank
- gonadal mosaicism long read sequencing
- five children sperm donor
- dominant disorders germline mosaicism
- genomic diversity sperm mosaicism
- human blastocysts sperm mosaicism
- sperm chromosome analysis non-mosaic klinefelter's syndrome
- sperm ultrastructure mosaic karyotype
- intracytoplasmic sperm injection mosaic klinefelter's syndrome
- long term communication sperm donor
- nf1 deletion sperm donor