Linkage Analysis of X Chromosome in Spontaneous Preterm Birth

Autor: M Hallman, Louis J. Muglia, Ritva Haataja, Aarno Palotie, Aino Luukkonen, Minna K. Karjalainen, Johanna M. Huusko, J Sotkasiira, Johanna Ulvila

Publikováno v: Pediatric Research. 70:659-659

Background: Preterm birth accounts for 2-3 million annual deaths worldwide and is the major cause of acute and chronic morbidity in children. More than 50% of preterm births have a spontaneous onset. Family studies suggest that genetic factors affect

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https://doi.org/10.1038/pr.2011.884

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Severe Phenotype With RECQL4 Syndrome: A Report of Two Cases.

Autor: Kanai Y; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Japan., Takahashi H; Department of Obstetrics and Gynecology, Jichi Medical University, Shimotsuke, Japan., Hasegawa F; Department of Clinical Genetics, National Center for Child Health and Development, Tokyo, Japan., Mori A; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan., Suzuki H; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.; Center for Medical Genetics, Keio University, Tokyo, Japan., Takahashi S; Department of Pediatrics, University of Tsukuba Hospital, Tsukuba, Japan., Fukushima H; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Japan., Takada H; Department of Child Health, Institute of Medicine, University of Tsukuba, Tsukuba, Japan., Horie K; Department of Obstetrics and Gynecology, Jichi Medical University, Shimotsuke, Japan., Ozawa K; Department of Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, Tokyo, Japan., Furukawa R; Department of Radiology, Jichi Medical University, Shimotsuke, Japan., Kosaki K; Center for Medical Genetics, Keio University, Tokyo, Japan., Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.; Department of Molecular Biology, Gunma University, Maebashi, Japan.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep 26, pp. e63884. Date of Electronic Publication: 2024 Sep 26.

Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.

Autor: Huusko, Johanna M.^1,2 johanna.huusko@oulu.fi, Karjalainen, Minna K.¹, Graham, Britney E.³, Zhang, Ge², Farrow, Emily G.⁴, Miller, Neil A.⁴, Jacobsson, Bo⁵, Eidem, Haley R.⁶, Murray, Jeffrey C.⁷, Bedell, Bruce⁷, Breheny, Patrick⁸, Brown, Noah W.⁹, Bødker, Frans L.¹⁰, Litterman, Nadia K.¹¹, Jiang, Pan-Pan¹¹, Russell, Laura¹¹, Hinds, David A.¹¹, Hu, Youna¹¹, null, null¹¹, Rokas, Antonis⁶

Publikováno v: PLoS Genetics. 7/12/2018, Vol. 14 Issue 7, p1-22. 22p.

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Autor: Suter, Aude‐Annick^1,2, Itin, Peter³, Heinimann, Karl⁴, Ahmed, Munaza⁵, Ashraf, Tazeen⁶, Fryssira, Helen⁷, Kini, Usha⁸, Lapunzina, Pablo⁹, Miny, Peter⁴, Sommerlund, Mette¹⁰, Suri, Mohnish¹¹, Vaeth, Signe¹², Vasudevan, Pradeep¹³, Gallati, Sabina^1,2

Publikováno v: Molecular Genetics & Genomic Medicine. May2016, Vol. 4 Issue 3, p359-366. 8p.