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Year Number of Results
1995 2
1996 1
1997 1
2002 1
2003 1
2004 1
2005 1
2006 1
2007 2
2008 1
2009 1
2010 1
2011 1
2012 3
2013 2
2014 2
2015 2
2016 1
2017 3
2018 4
2019 6
2020 5
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2022 12
2023 7
2024 5

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62 results

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Page 1
PHACE syndrome: clinical manifestations, diagnostic criteria, and management.
Rotter A, Samorano LP, Rivitti-Machado MC, Oliveira ZNP, Gontijo B. Rotter A, et al. An Bras Dermatol. 2018 Jun;93(3):405-411. doi: 10.1590/abd1806-4841.20187693. An Bras Dermatol. 2018. PMID: 29924216 Free PMC article. Review.
In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the ao …
In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cerv …
Review of Genotype-Phenotype Correlations in Usher Syndrome.
Nisenbaum E, Thielhelm TP, Nourbakhsh A, Yan D, Blanton SH, Shu Y, Koehler KR, El-Amraoui A, Chen Z, Lam BL, Liu X. Nisenbaum E, et al. Ear Hear. 2022 Jan/Feb;43(1):1-8. doi: 10.1097/AUD.0000000000001066. Ear Hear. 2022. PMID: 34039936 Free PMC article. Review.
The genotype-phenotype relationships among USH forms also may vary significantly based on the location and type of mutation in the gene of interest. Understanding these genotype-phenotype relationships and associated natural disease histories is necessary for the successfu …
The genotype-phenotype relationships among USH forms also may vary significantly based on the location and type of mutation in the ge …
Reconstruction after ablative treatment of arteriovenous malformations of the head and neck.
Chung HY, O TM, Tombris S, Meyer L, Waner M. Chung HY, et al. J Oral Pathol Med. 2022 Nov;51(10):872-877. doi: 10.1111/jop.13368. Epub 2022 Nov 22. J Oral Pathol Med. 2022. PMID: 36181711 Review.
Arteriovenous malformations are high-flow congenital vascular malformations that are characterized by abnormal connections between arteries and veins across an abnormal capillary bed. ...With the advent of genetic research, adjuvant targeted medical therap …
Arteriovenous malformations are high-flow congenital vascular malformations that are characterized by abnormal connections bet …
Consensus clinical management guidelines for Alstrom syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Tahani N, et al. Orphanet J Rare Dis. 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. Orphanet J Rare Dis. 2020. PMID: 32958032 Free PMC article.
The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and inte …
The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. …
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D, Arno G, Corton M, Moosajee M. Lima Cunha D, et al. Genes (Basel). 2019 Dec 17;10(12):1050. doi: 10.3390/genes10121050. Genes (Basel). 2019. PMID: 31861090 Free PMC article. Review.
The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it is involved in t …
The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. Du …
Polypoidal choroidal vasculopathy: Pearls in diagnosis and management.
Anantharaman G, Sheth J, Bhende M, Narayanan R, Natarajan S, Rajendran A, Manayath G, Sen P, Biswas R, Banker A, Gupta C. Anantharaman G, et al. Indian J Ophthalmol. 2018 Jul;66(7):896-908. doi: 10.4103/ijo.IJO_1136_17. Indian J Ophthalmol. 2018. PMID: 29941728 Free PMC article. Review.
Current treatment modalities for PCV include photodynamic therapy, anti-vascular endothelial growth factor agents, and thermal laser. Choice of specific treatment modality and prognosis depends on multiple factors such as the location and size of PCV lesion, presenc …
Current treatment modalities for PCV include photodynamic therapy, anti-vascular endothelial growth factor agents, and thermal laser. …
Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype-Phenotype Correlation.
Gavril EC, Popescu R, Nucă I, Ciobanu CG, Butnariu LI, Rusu C, Pânzaru MC. Gavril EC, et al. Genes (Basel). 2022 Nov 10;13(11):2083. doi: 10.3390/genes13112083. Genes (Basel). 2022. PMID: 36360320 Free PMC article.
A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A-B, 1 CES (Cat Eye Syndrome region) to LCR B deletion, 4 nested deletions LCR B-D and 1 LCR C-D, 3 LCR A-E deletions, 1 LCR D-E, and 2 small single gene deletions: delDGCR8 and delTOP3B. ...
A total of 14 atypical new deletions were identified: 2 proximal deletions LCR A-B, 1 CES (Cat Eye Syndrome region) to LCR B deletion …
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D. Miroševič Š, et al. Int J Mol Sci. 2022 Oct 19;23(20):12564. doi: 10.3390/ijms232012564. Int J Mol Sci. 2022. PMID: 36293418 Free PMC article. Review.
Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and add …
Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI resul …
Genotype-phenotype correlation in von Hippel-Lindau disease.
Reich M, Jaegle S, Neumann-Haefelin E, Klingler JH, Evers C, Daniel M, Bucher F, Ludwig F, Nuessle S, Kopp J, Boehringer D, Reinhard T, Lagrèze WA, Lange C, Agostini H, Lang SJ. Reich M, et al. Acta Ophthalmol. 2021 Dec;99(8):e1492-e1500. doi: 10.1111/aos.14843. Epub 2021 Mar 15. Acta Ophthalmol. 2021. PMID: 33720516 Free article.
Genetic data and date of onset of RH, central nervous system haemangioblastomas (CNSH), pheochromocytoma/paraganglioma (PPGL), clear cell renal cell carcinoma (ccRCC) and pancreatic neuroendocrine neoplasm (PNEN) were collected. The number and locations of RH were recorded …
Genetic data and date of onset of RH, central nervous system haemangioblastomas (CNSH), pheochromocytoma/paraganglioma (PPGL), clear cell re …
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Melland H, Bumbak F, Kolesnik-Taylor A, Ng-Cordell E, John A, Constantinou P, Joss S, Larsen M, Fagerberg C, Laulund LW, Thies J, Emslie F, Willemsen M, Kleefstra T, Pfundt R, Barrick R, Chang R, Loong L, Alfadhel M, van der Smagt J, Nizon M, Kurian MA, Scott DJ, Ziarek JJ, Gordon SL, Baker K. Melland H, et al. Genet Med. 2022 Apr;24(4):880-893. doi: 10.1016/j.gim.2021.12.002. Epub 2022 Jan 29. Genet Med. 2022. PMID: 35101335 Free PMC article.
Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability, movement disorders, behavioral disturbances, and electroencephalogram abnormalities. In this study, we expand the genotypes and phenotypes and identify discrimi …
Previously reported missense SYT1 variants in the C2B domain are associated with severe intellectual disability, movement disorders, behavio …
62 results