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The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.

• Authors : Fabbri, Helena Campos¹ ; Ribeiro de Andrade, Juliana Gabriel² ; Soardi, Fernanda Caroline¹

• Source: BMC Medical Genetics. 2014, Vol. 15 Issue 1, p2-15. 14p.

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Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report.

• Authors : Grzechocińska B; 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Pl. Starynkiewicza 1/3, 02-015, Warsaw, Poland.; Warzecha D

Subjects: Genetic Association Studies* ; Mutation*; Blepharophimosis/Blepharophimosis/Blepharophimosis/*genetics Blepharophimosis, Ptosis, and Epicanthus Inversus

• Source: BMC medical genetics [BMC Med Genet] 2019 Jul 31; Vol. 20 (1), pp. 132. Date of Electronic Publication: 2019 Jul 31.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report.

• Authors : Miano MG; Institute of Genetics and Biophysics, Adriano Buzzati Traverso, CNR, Naples, Italy. ; Laperuta C

Subjects: Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/Fragile X Mental Retardation Protein/*genetics ; Fragile X Syndrome/Fragile X Syndrome/Fragile X Syndrome/*genetics ; Primary Ovarian Insufficiency/Primary Ovarian Insufficiency/Primary Ovarian Insufficiency/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2007 Apr 11; Vol. 8, pp. 18. Date of Electronic Publication: 2007 Apr 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.

• Authors : Zhou L; The 3rd Department, Plastic Surgery Hospital of the Chinese Academy of Medical Sciences, Peking Union Medical College, Badachu Road, Shijingshan District, No. 33, Beijing, 100041, China.; Wang J

Subjects: Asian People/Asian People/Asian People/*genetics ; Blepharophimosis/Blepharophimosis/Blepharophimosis/*genetics ; Blepharoptosis/Blepharoptosis/Blepharoptosis/*genetics

• Source: BMC medical genetics [BMC Med Genet] 2018 Jul 20; Vol. 19 (1), pp. 121. Date of Electronic Publication: 2018 Jul 20.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.

• Authors : Beke A; 1st Department of Obstetrics and Gynecology, Semmelweis University, Baross u. 27, Budapest, 1428, Hungary. .; Piko H

Subjects: Mutation/Mutation/Mutation/*genetics ; Primary Ovarian Insufficiency/Primary Ovarian Insufficiency/Primary Ovarian Insufficiency/*genetics; Alleles

• Source: BMC medical genetics [BMC Med Genet] 2018 Jul 09; Vol. 19 (1), pp. 113. Date of Electronic Publication: 2018 Jul 09.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.

• Authors : Kui Chen¹; Ke Yang¹; Su-Shan Luo¹

• Source: BMC Medical Genetics. 8/23/2017, Vol. 18 Issue 1, p1-9. 9p.

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