Frontiers in Bioscience-ScholarBackground: The 47,XYY syndrome is a genetic condition found in about 1 in 1000 male children. The expected phenotype is male but could vary greatly.
Marcelo Jones Pires +10 more
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Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. [PDF]
, 2018 BackgroundHypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic.
Diao, Feiyang +6 more
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Correction to: Gonadal mosaicism mediated female-biased gender control in mice. [PDF]
Protein Cell, 2022 Bai M +6 more
europepmc +1 more source
Síndrome de turner estudo da correlação clínica e citogenética em oito pacientes. [PDF]
, 1996 Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Tocoginecologia, Curso de Medicina, Florianópolis ...
Fonseca, Ivan Carlos da
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Nucleic acids delivery methods for genome editing in zygotes and embryos: the old, the new, and the old-new [PDF]
, 2016 In the recent years, sequence-specific nucleases such as ZFNs, TALENs, and CRISPR/Cas9 have revolutionzed the fields of animal genome editing and transgenesis.
Channabasavaiah B. Gurumurthy +3 more
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Molecular Cytogenetics, 2010 Background Trisomy of chromosome 21 (T21; Down syndrome, DS) is the most common aneuploidy in live births. Though its etiology has been intensively studied for a half of century, there are surprisingly many problems awaiting their elucidation.
Kovaleva Natalia V
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Of sex and determination: marking 25 years of Randy, the sex-reversed mouse [PDF]
, 2016 On Thursday 9 May 1991, the world awoke to front-page news of a breakthrough in biological research. From Washington to Wollongong, newspapers, radio and TV were abuzz with the story of a transgenic mouse in London called Randy.
Koopman, Peter +2 more
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Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang [PDF]
, 2006 Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked ...
Tonang, Alvin
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Therapy resistant neonatal seizures, linear vesicular rash, and unusually early neuroradiological changes: incontinentia pigmenti: A case report, literature review and insight into pathogenesis [PDF]
, 2018 Case presentation: A substance abusing G2P1 mother spontaneously delivered at term an appropriate for gestational age girl. Neonatal seizures appeared at 21hours and empiric anticonvulsive and antimicrobial treatment was started.
Gardiner, Jane +5 more
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