Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.

Autor: Zhen X; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., Betti M; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., Kars ME; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai., Patterson A; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center., Medina-Torres EA; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat., Scheffler Mendoza SC; Clinical Immunology Service, National Institute of Pediatrics, Health Secretariat., Herrera Sánchez DA; Specialty Hospital, National Medical Center XXI Century., Lopez-Herrera G; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat., Svyryd Y; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán., Mutchinick O; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán., Gamazon E; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., Rathmell J; Division of Molecular Pathogenesis, Department of Medicine, Vanderbilt University Medical Center., Itan Y; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai., Markle J; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center., O'Farrill Romanillos P; Specialty Hospital, National Medical Center XXI Century., Lugo-Reyes SO; Immune deficiencies laboratory, National Institute of Pediatrics, Health Secretariat., Martinez-Barricarte R; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center.

Publikováno v: Research square [Res Sq] 2024 Jul 11. Date of Electronic Publication: 2024 Jul 11.

Distribution of ABO Blood Groups and Other Genetic Markers in Mothers of Infants with Congenital Malformations

Autor: Lisker, R., Mutchinick, O., Pérez-Briceño, R., Gómez, H., Navarrete, J. I., Salazar, C., Kofman, S., Saavedra, D.

Publikováno v: Human Heredity, 1982 Jan 01. 32(3), 166-169.

Externí odkaz: https://www.jstor.org/stable/45101721

Bayesian polygenic risk estimation approach to nuclear families with discordant sib-pairs for myelomeningocele.

Autor: Aguayo-Gómez, Adolfo¹ (AUTHOR), Luna-Muñoz, Leonora¹ (AUTHOR), Svyryd, Yevgeniya¹ (AUTHOR), Muñoz-Téllez, Luis Ángel¹ (AUTHOR), Mutchinick, Osvaldo M.¹ (AUTHOR) osvaldo@unam.mx

Publikováno v: PLoS ONE. 12/30/2024, Vol. 19 Issue 12, p1-12. 12p.

Association between MAPK and PI3K/Akt signaling pathway‐related gene polymorphisms and migraine.

Autor: Wang, Mingxue¹ (AUTHOR), Gu, Yujia² (AUTHOR), Meng, Shuhan¹ (AUTHOR), Kang, Lixin¹ (AUTHOR), Yang, Jing³ (AUTHOR), Sun, Degang³ (AUTHOR), Liu, Yuxing⁴ (AUTHOR), Wan, Ze⁵ (AUTHOR), Shan, Yi⁶ (AUTHOR), Xue, Dongjie⁷ (AUTHOR), Su, Chang⁸ (AUTHOR), Li, Shufen⁹ (AUTHOR), RanYan¹ (AUTHOR), Liu, Yu² (AUTHOR), Pan, Yonghui¹⁰ (AUTHOR) aigui1993@126.com, Zhao, Yashuang¹ (AUTHOR) zhao_yashuang@263.net

Publikováno v: Molecular Genetics & Genomic Medicine. Aug2024, Vol. 12 Issue 8, p1-18. 18p.

Cytogenomic description of a Mexican cohort with differences in sex development.

Autor: Olivera-Bernal, Grecia C.¹ (AUTHOR), De Ita-Ley, Marlon^1,2 (AUTHOR), Ricárdez-Marcial, Edgar F.³ (AUTHOR), Garduño-Zarazúa, Luz María¹ (AUTHOR), González-Cuevas, Ángel Ricardo¹ (AUTHOR), Sepúlveda-Robles, Omar A.¹ (AUTHOR), Huicochea-Montiel, Juan Carlos⁴ (AUTHOR), Cárdenas-Conejo, Alan⁴ (AUTHOR), Santana-Díaz, Laura³ (AUTHOR), Rosas-Vargas, Haydeé¹ (AUTHOR) hayrov@gmail.com

Publikováno v: Molecular Cytogenetics (17558166). 7/15/2024, Vol. 17 Issue 1, p1-9. 9p.