Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q q25.3q26.13 in a male child with ambiguous genitalia: Evidence for a new critical region for genital developmentHow to cite this article: Mardo V, Squibb EE, Braverman N, HooverFong JE, Migeon C, Batista DAS, Thomas GH. 2008. Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q q25.3q26.13 in a male child with ambiguous genitalia: Evidence for a new critical region for genital development. Am J Med Genet Part A 146A:2293–2297.

Autor: Mardo, Veronica, Squibb, Elizabeth E., Braverman, Nancy, HooverFong, Julie E., Migeon, Claude, Batista, Denise A.S., Thomas, George H.

Publikováno v: American Journal of Medical Genetics. Part A; September 2008, Vol. 146 Issue: 17 p2293-2297, 5p

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Autor: Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jun; Vol. 25 (6), pp. 100828. Date of Electronic Publication: 2023 Apr 13.

Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.

Autor: Cheung A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada., Argyriou C; Department of Human Genetics, McGill University, Montreal, QC, Canada., Yergeau C; Department of Human Genetics, McGill University, Montreal, QC, Canada., D'Souza Y; Department of Human Genetics, McGill University, Montreal, QC, Canada., Riou É; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada., Lévesque S; Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada., Raymond G; Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD, USA., Daba M; Carilion Children's Pediatric Neurology, Roanoke, VA, USA., Rtskhiladze I; Medical Center Mrcheveli, Tbilisi, Georgia., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia., Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., La Piana R; Department of Neurology & Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.; Department of Radiology, McGill University, Montreal, QC, Canada., Bernard G; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada.; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.; Child Health and Human Development Program, Research Institute, McGill University Health Center, Montreal, QC, Canada., Braverman N; Departments of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada. nancy.braverman@mcgill.ca.

Publikováno v: Neurogenetics [Neurogenetics] 2022 Apr; Vol. 23 (2), pp. 115-127. Date of Electronic Publication: 2022 Feb 02.

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update.

Autor: Duker AL; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Niiler T; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Kinderman D; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Schouten M; Amsterdam University Medical Center, Amsterdam, The Netherlands., Poll-The BT; Amsterdam University Medical Center, Amsterdam, The Netherlands., Braverman N; McGill University, Montreal, QC, Canada., Bober MB; Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Mar; Vol. 182 (3), pp. 579-583. Date of Electronic Publication: 2019 Nov 25.

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

Autor: Thistlethwaite LR; Quantitative and Computational Biosciences Program, Baylor College of Medicine, One Baylor Plaza, 400D, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Li X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hacia JG; Department of Biochemistry and Molecular Medicine, Keck School of Medicine of the University of Southern California, Los Angeles, CA, USA., Braverman N; Department of Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Jan and Dan Duncan Texas Children's Hospital Neurological Research Institute, Houston, TX, USA., Miller MJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Milosavljevic A; Quantitative and Computational Biosciences Program, Baylor College of Medicine, One Baylor Plaza, 400D, Houston, TX, 77030, USA. amilosav@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. amilosav@bcm.edu.

Publikováno v: Scientific reports [Sci Rep] 2022 Apr 21; Vol. 12 (1), pp. 6556. Date of Electronic Publication: 2022 Apr 21.