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- [42] Del 1p36 syndrome: a newly emerging clinical entityBRAIN & DEVELOPMENT, 2005, 27 (05) : 358 - 361Battaglia, A论文数: 0 引用数: 0 h-index: 0机构: Stella Maris Clin Res Inst Child & Adolescent Neu, Pisa, Italy Stella Maris Clin Res Inst Child & Adolescent Neu, Pisa, Italy
- [43] Prenatal diagnosis of pure 1p36 terminal deletion by chromosome microarry analysis: clinical report of 3 new cases and review of the literature Running title: Prenatal diagnosis of 1p36 terminal deletionGINEKOLOGIA POLSKA, 2021, : 947 - 951Song, Tingting论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaZheng, Jiao论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaLi, Yu论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaLi, Jia论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaGuo, Fenfen论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaZhao, Huashu论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaZhang, Wei论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaXu, Ying论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R ChinaYang, Hong论文数: 0 引用数: 0 h-index: 0机构: Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China Air Force Med Univ, Dept Obstet & Gynecol, Affiliated Hosp 1, Xian, Shaanxi, Peoples R China
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- [45] 1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization (FISH): a case reportPAN AFRICAN MEDICAL JOURNAL, 2020, 37 : 349Dafir, Kenza论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, Morocco Cadi Ayyad Univ, Sch Med & Pharm Marrakech, Marrakech, Morocco Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, MoroccoBouzid, Fatima Zahra论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, Morocco Cadi Ayyad Univ, Sch Med & Pharm Marrakech, Marrakech, Morocco Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, MoroccoMansouri, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, Morocco Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, MoroccoAboussair, Nisrine论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, Morocco Cadi Ayyad Univ, Sch Med & Pharm Marrakech, Marrakech, Morocco Univ Hosp Ctr Mohammed VI, Clin Res Ctr, Genet Dept, Marrakech, Morocco
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- [47] Loss of the potassium channel β-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndromeEPILEPSIA, 2001, 42 (09) : 1103 - 1111Heilstedt, HA论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USABurgess, DL论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAAnderson, AE论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAChedrawi, A论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USATharp, B论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USALee, O论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAKashork, CD论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAStarkey, DE论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAWu, YQ论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USANoebels, JL论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShaffer, LG论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USAShapira, SK论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
- [48] SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesAMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (03) : 502 - 516Radio, Francesca Clementina论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyPang, Kaifang论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyCiolfi, Andrea论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyLevy, Michael A.论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON N6A 5W9, Canada Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyHernandez-Garcia, Andres论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyPedace, Lucia论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Oncohaematol Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyPantaleoni, Francesca论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyLiu, Zhandong论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Div Neurol & Dev Neurosci, Houston, TX 77030 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italyde Boer, Elke论文数: 0 引用数: 0 h-index: 0机构: Radboudumc, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, NL-6525 GA Nijmegen, Netherlands Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyJackson, Adam论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut & Genom Sci, Manchester M13 9WL, Lancs, England Manchester Univ NHS Fdn Trust, Manchester Ctr Genom Med, St Marys Hosp, Manchester M13 9WL, Lancs, England Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyBruselles, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, I-00161 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMcConkey, Haley论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON N6A 5W9, Canada Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyStellacci, Emilia论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, I-00161 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyLo Cicero, Stefania论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Dept Oncol & Mol Med, I-00161 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMotta, Marialetizia论文数: 0 引用数: 0 h-index: 0机构: Osped Pediatr Bambino Gesu, IRCCS, Oncohaematol Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyCarrozzo, Rosalba论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyDentici, Maria Lisa论文数: 0 引用数: 0 h-index: 0机构: Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, Italy Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMcWalter, Kirsty论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyDesai, Megha论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMonaghan, Kristin G.论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyTelegrafi, Aida论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyPhilippe, Christophe论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Inserm UMR 1231 GAD Genet Anomalies Dev, F-21070 Dijon, France CHU, UF Innovat Diagnost Genom Malad Rares, F-21079 Dijon, France Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyVitobello, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Bourgogne, Inserm UMR 1231 GAD Genet Anomalies Dev, F-21070 Dijon, France CHU, UF Innovat Diagnost Genom Malad Rares, F-21079 Dijon, France Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyAu, Margaret论文数: 0 引用数: 0 h-index: 0机构: UCL Med Sch, David Geffen Sch Med, Dept Pediat, Div Med Genet,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyGrand, Katheryn论文数: 0 引用数: 0 h-index: 0机构: UCL Med Sch, David Geffen Sch Med, Dept Pediat, Div Med Genet,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalySanchez-Lara, Pedro A.论文数: 0 引用数: 0 h-index: 0机构: UCL Med Sch, David Geffen Sch Med, Dept Pediat, Div Med Genet,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyBaez, Joanne论文数: 0 引用数: 0 h-index: 0机构: UCL Med Sch, David Geffen Sch Med, Dept Pediat, Div Med Genet,Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyLindstrom, Kristin论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Phoenix, AZ 85016 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyKulch, Peggy论文数: 0 引用数: 0 h-index: 0机构: Phoenix Childrens Hosp, Phoenix, AZ 85016 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalySebastian, Jessica论文数: 0 引用数: 0 h-index: 0机构: UPMC Childrens Hosp Pittsburgh, Dept Pediat, Div Med Genet, Pittsburgh, PA 15224 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMadan-Khetarpal, Suneeta论文数: 0 引用数: 0 h-index: 0机构: UPMC Childrens Hosp Pittsburgh, Dept Pediat, Div Med Genet, Pittsburgh, PA 15224 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyRoadhouse, Chelsea论文数: 0 引用数: 0 h-index: 0机构: McMaster Childrens Hosp, Hamilton, ON L8N 3Z5, Canada Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMacKenzie, Jennifer J.论文数: 0 引用数: 0 h-index: 0机构: McMaster Childrens Hosp, Hamilton, ON L8N 3Z5, Canada Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyMonteleone, Berrin论文数: 0 引用数: 0 h-index: 0机构: NYU Langone Long Isl Sch Med, Clin Genet, Mineola, NY 11501 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalySaunders, Carol J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Ctr Pediat Genom Med, Kansas City, MO 64108 USA Osped Pediat Bambino Gesu, IRCCS, Genet & Rare Dis Res Div, I-00146 Rome, ItalyCuevas, July K. 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