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For: Bull MJ, Fitzgerald JF, Heifetz SA, Brei TJ. Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome. Am J Med Genet 1993;47:1029-34. [PMID: 8291519 DOI: 10.1002/ajmg.1320470720] [Citation(s) in RCA: 24] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
Number Cited by Other Article(s)
1
Arun O, Oc B, Metin EN, Sert A, Yilmaz R, Oc M. Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report. World J Cardiol 2022;14:54-63. [PMID: 35126872 PMCID: PMC8788174 DOI: 10.4330/wjc.v14.i1.54] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/02/2021] [Revised: 07/14/2021] [Accepted: 12/21/2021] [Indexed: 02/06/2023]  Open
2
Parma B, Cianci P, Decimi V, Mariani M, Provero MC, Funari C, Tajè S, Apuril E, Cereda A, Panceri R, Maitz S, Fossati C, Selicorni A. Complex nutritional deficiencies in a large cohort of Italian patients with Cornelia de Lange syndrome spectrum. Am J Med Genet A 2020;182:2094-2101. [PMID: 32648352 DOI: 10.1002/ajmg.a.61749] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/07/2019] [Revised: 05/28/2020] [Accepted: 06/07/2020] [Indexed: 01/09/2023]
3
Richardson TL, Ransom M, Crane G, Plosa E, Sucre J. Case 3: Emesis in a Term Infant with Dysmorphic Features. Neoreviews 2020;21:e127-e130. [PMID: 32005724 PMCID: PMC7081374 DOI: 10.1542/neo.21-2-e127] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/10/2023]
4
Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, Ishman SL, Kerr LM, Levin AV, Mulder PA, Ramos FJ, Wierzba J, Ajmone PF, Axtell D, Blagowidow N, Cereda A, Costantino A, Cormier-Daire V, FitzPatrick D, Grados M, Groves L, Guthrie W, Huisman S, Kaiser FJ, Koekkoek G, Levis M, Mariani M, McCleery JP, Menke LA, Metrena A, O'Connor J, Oliver C, Pie J, Piening S, Potter CJ, Quaglio AL, Redeker E, Richman D, Rigamonti C, Shi A, Tümer Z, Van Balkom IDC, Hennekam RC. Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018;19:649-666. [PMID: 29995837 PMCID: PMC7136165 DOI: 10.1038/s41576-018-0031-0] [Citation(s) in RCA: 231] [Impact Index Per Article: 33.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 02/06/2023]
5
Decimi V, Parma B, Panceri R, Fossati C, Mariani M, Russo S, Gervasini CC, Cheli M, Cereda A, Selicorni A. Use of nutritional devices in Cornelia de Lange syndrome: Data from a large Italian cohort. Am J Med Genet A 2018;176:1865-1871. [DOI: 10.1002/ajmg.a.40372] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/25/2017] [Revised: 05/22/2018] [Accepted: 05/28/2018] [Indexed: 01/21/2023]
6
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation. Case Rep Genet 2012;2012:247683. [PMID: 23304577 PMCID: PMC3529426 DOI: 10.1155/2012/247683] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/30/2012] [Accepted: 11/21/2012] [Indexed: 11/18/2022]  Open
7
Johns DA, Bhonsale DL, Shivashanker VY, Johns M. Aesthetic and functional management of a patient with Cornelia de Lange syndrome. Contemp Clin Dent 2012;3:S86-91. [PMID: 22629076 PMCID: PMC3354795 DOI: 10.4103/0976-237x.95113] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]  Open
8
Somerville H, Tzannes G, Wood J, Shun A, Hill C, Arrowsmith F, Slater A, O'Loughlin EV. Gastrointestinal and nutritional problems in severe developmental disability. Dev Med Child Neurol 2008;50:712-6. [PMID: 18754923 DOI: 10.1111/j.1469-8749.2008.03057.x] [Citation(s) in RCA: 30] [Impact Index Per Article: 1.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
9
Cossu MC, Nava I, Leoni S, Piccardi L. Neuropsychological rehabilitation in a case of Cornelia de Lange syndrome. Neuropsychol Rehabil 2005;15:147-60. [PMID: 16353507 DOI: 10.1080/09602010443000092] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/23/2022]
10
Moss J, Oliver C, Hall S, Arron K, Sloneem J, Petty J. The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH : JIDR 2005;49:269-277. [PMID: 15816814 DOI: 10.1111/j.1365-2788.2005.00649.x] [Citation(s) in RCA: 16] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/24/2023]
11
Luzzani S, Macchini F, Valadè A, Milani D, Selicorni A. Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms. Am J Med Genet A 2003;119A:283-7. [PMID: 12784293 DOI: 10.1002/ajmg.a.20191] [Citation(s) in RCA: 82] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/10/2022]
12
Miller JL, Sonies BC, Macedonia C. Emergence of oropharyngeal, laryngeal and swallowing activity in the developing fetal upper aerodigestive tract: an ultrasound evaluation. Early Hum Dev 2003;71:61-87. [PMID: 12614951 DOI: 10.1016/s0378-3782(02)00110-x] [Citation(s) in RCA: 76] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/15/2022]
13
Macedonia C, Miller JL, Sonies BC. Power Doppler imaging of the fetal upper aerodigestive tract using a 4-point standardized evaluation: preliminary report. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2002;21:869-878. [PMID: 12164572 DOI: 10.7863/jum.2002.21.8.869] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/23/2023]
14
Sarimski K. Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome. JOURNAL OF INTELLECTUAL DISABILITY RESEARCH : JIDR 1997;41 ( Pt 1):70-75. [PMID: 9089461 DOI: 10.1111/j.1365-2788.1997.tb00678.x] [Citation(s) in RCA: 38] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 05/22/2023]
15
Ireland M. Cornelia de Lange syndrome: clinical features, common complications and long-term prognosis. ACTA ACUST UNITED AC 1996. [DOI: 10.1016/s0957-5839(96)80064-9] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/25/2022]
16
Van Allen MI, Filippi G, Siegel-Bartelt J, Yong SL, McGillivray B, Zuker RM, Smith CR, Magee JF, Ritchie S, Toi A. Clinical variability within Brachmann-de Lange syndrome: a proposed classification system. AMERICAN JOURNAL OF MEDICAL GENETICS 1993;47:947-58. [PMID: 8291538 DOI: 10.1002/ajmg.1320470704] [Citation(s) in RCA: 71] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
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