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Year Number of Results
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1989 1
1991 1
1992 1
1993 1
1996 2
1997 2
1998 2
1999 2
2000 1
2001 2
2002 3
2003 2
2005 1
2006 2
2007 2
2008 2
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2010 4
2011 2
2012 1
2013 2
2015 2
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54 results

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Page 1
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor....
Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other special …
Obstetric US: watch the fetal hands.
Rypens F, Dubois J, Garel L, Fournet JC, Michaud JL, Grignon A. Rypens F, et al. Radiographics. 2006 May-Jun;26(3):811-29; discussion 830-1. doi: 10.1148/rg.263055113. Radiographics. 2006. PMID: 16702456 Review.
Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities (clenched hand, camptodactyly, clinodactyly, hypokinesia, clubhand, phocomelia), thumb anomalies, abnormal size (macrodactyly, trident hand), …
Malformations of the hand can be classified, according to the predominant anomaly, among the following categories: alignment abnormalities ( …
Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB. Ganske IM, et al. Cleft Palate Craniofac J. 2021 Feb;58(2):237-243. doi: 10.1177/1055665620949124. Epub 2020 Aug 30. Cleft Palate Craniofac J. 2021. PMID: 32864997
Pathogenic variants in TP63 were the most frequent finding in the 11 patients who had genetic testing. Aberrations from a typical clinical course included failure of presurgical dentofacial orthopedics, dehiscence of nasolabial adhesion, and total palatal absence requiring …
Pathogenic variants in TP63 were the most frequent finding in the 11 patients who had genetic testing. Aberrations from a typical clinical …
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr. Braddock SR, et al. Am J Med Genet. 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. Am J Med Genet. 1993. PMID: 8291513 Review.
Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, mic …
Brachmann-de Lange syndrome (BDLS) is a well-delineated disorder consisting variably of pre- and postnatal growth deficiency, microbrachycep …
Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices.
Labunski A, Carrasquillo KG, Brocks D. Labunski A, et al. Eye Contact Lens. 2023 Jun 1;49(6):262-265. doi: 10.1097/ICL.0000000000000987. Epub 2023 Apr 13. Eye Contact Lens. 2023. PMID: 37053073
The goal of treatment was to stabilize the ocular surface, enhance vision, and improve ocular comfort. Throughout the course of treatment, there was minimal progression in ocular signs, despite interruptions in scleral device wear from application and removal challenges se …
The goal of treatment was to stabilize the ocular surface, enhance vision, and improve ocular comfort. Throughout the course of treat …
Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome.
Kennedy DP, Chandler JW, McCulley JP. Kennedy DP, et al. Cont Lens Anterior Eye. 2015 Jun;38(3):228-31. doi: 10.1016/j.clae.2015.02.002. Epub 2015 Mar 11. Cont Lens Anterior Eye. 2015. PMID: 25769661
Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. This second patient's course was complicated by allergic conjunctivitis and advanced steroid-induced glaucoma. ...
Patient 2 presented with severe signs and symptoms of limbal stem cell deficiency with diffuse corneal scarring and counting fingers vision. …
Cleft palate and complex chromosome rearrangements.
Kousseff BG, Papenhausen P, Neu RL, Essig YP, Saraceno CA. Kousseff BG, et al. Clin Genet. 1992 Sep;42(3):135-42. doi: 10.1111/j.1399-0004.1992.tb03225.x. Clin Genet. 1992. PMID: 1327590 Review.
Accurate cytogenetic diagnosis determines the short- and long-term prognosis and facilitates genetic counseling in regard to life-span, quality of life and reproductive plans of patients and parents....
Accurate cytogenetic diagnosis determines the short- and long-term prognosis and facilitates genetic counseling in regard to life-spa …
Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X, Lin X, Zhu Y, Luo J, Lin G. Yang X, et al. Mol Med Rep. 2018 Jun;17(6):7553-7558. doi: 10.3892/mmr.2018.8838. Epub 2018 Mar 29. Mol Med Rep. 2018. PMID: 29620206 Free PMC article.
The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding site and dimerization site of TP63. The R243Q mutation was predicted to be pathogenic by PolyPhen-2. The proband, who was diagnosed with …
The father was diagnosed with SHFM and harbored a CGG-to-CAG mutation in exon 5, which produced a R243Q substitution in the zinc binding sit …
TP63 gene mutations in Chinese P63 syndrome patients.
Yin W, Ye X, Shi L, Wang QK, Jin H, Wang P, Bian Z. Yin W, et al. J Dent Res. 2010 Aug;89(8):813-7. doi: 10.1177/0022034510366804. Epub 2010 Apr 21. J Dent Res. 2010. PMID: 20410354
Three missense mutation, c.812G>C (Ser271Thr), c.611G>A (Arg204Gln), and c.680G>A (Arg227Gln), which lead to the substitution of highly conserved amino acids in the DNA-binding domain of TP63, were identified. These mutations were predicted to disrupt DNA-binding …
Three missense mutation, c.812G>C (Ser271Thr), c.611G>A (Arg204Gln), and c.680G>A (Arg227Gln), which lead to the substitution of hi …
54 results