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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1968 1
1971 1
1972 1
1974 1
1975 1
1979 1
1981 3
1982 1
1985 4
1987 1
1988 2
1990 4
1991 12
1993 7
1994 2
1995 4
1996 5
1997 6
1998 6
2000 6
2001 6
2002 4
2004 4
2005 4
2006 3
2007 4
2008 8
2009 3
2010 6
2011 3
2012 7
2013 4
2014 8
2015 3
2016 3
2017 3
2018 6
2019 3
2020 3
2021 10
2022 8
2023 2

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161 results

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Page 1
Pfeiffer type 2 syndrome: review with updates on its genetics and molecular biology.
Rai R, Iwanaga J, Dupont G, Oskouian RJ, Loukas M, Oakes WJ, Tubbs RS. Rai R, et al. Childs Nerv Syst. 2019 Sep;35(9):1451-1455. doi: 10.1007/s00381-019-04244-7. Epub 2019 Jun 21. Childs Nerv Syst. 2019. PMID: 31222448 Review.
METHODS: This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and molecular biology. CONCLUSION: This subtype of the syndrome is caused by de novo sporadic mutations, the majority of which occur in the fibrob …
METHODS: This review will specifically examine the most severe type, Pfeiffer syndrome type 2, focusing on its genetics and mo …
Pfeiffer syndrome.
Vogels A, Fryns JP. Vogels A, et al. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. Orphanet J Rare Dis. 2006. PMID: 16740155 Free PMC article. Review.
Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the t …
Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental de …
Acrocephalosyndactyly syndromes: a review.
Prevel CD, Eppley BL, McCarty M. Prevel CD, et al. J Craniofac Surg. 1997 Jul;8(4):279-85. doi: 10.1097/00001665-199707000-00010. J Craniofac Surg. 1997. PMID: 9482052 Review.
Over the last quarter century, a revision has taken place in the classification of the acrocephalosyndactyly syndromes. This reflects the advances in molecular biology that have led to improved genetic mapping of these syndromes. In this review we provide an overview of th …
Over the last quarter century, a revision has taken place in the classification of the acrocephalosyndactyly syndromes. This reflects …
Genetic obesity syndromes.
Goldstone AP, Beales PL. Goldstone AP, et al. Front Horm Res. 2008;36:37-60. doi: 10.1159/000115336. Front Horm Res. 2008. PMID: 18230893 Review.
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D. Mavridis IN, et al. Childs Nerv Syst. 2021 Feb;37(2):367-374. doi: 10.1007/s00381-020-04934-7. Epub 2020 Oct 20. Childs Nerv Syst. 2021. PMID: 33083874 Review.
Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malformation. Spinal anomalies in PS patients include fusion of vertebrae, "butterfly" vertebra, and sacrococcygeal extension. Different features h …
Secondary anomalies are the result of skull deformity and include intracranial hypertension, hydrocephalus, and Chiari type I malform …
[Apert syndrome].
Benmiloud S, Chaouki S, Atmani S, Hida M. Benmiloud S, et al. Pan Afr Med J. 2013;14:66. doi: 10.11604/pamj.2013.14.66.2178. Epub 2013 Feb 18. Pan Afr Med J. 2013. PMID: 23565313 Free PMC article. Review. French.
Dear old dad.
Glaser RL, Jabs EW. Glaser RL, et al. Sci Aging Knowledge Environ. 2004 Jan 21;2004(3):re1. doi: 10.1126/sageke.2004.3.re1. Sci Aging Knowledge Environ. 2004. PMID: 14736914 Review.
Optic Nerve Atrophy in Syndromic Craniosynostosis.
Fearon JA, Barrientos S, Ditthakasem K, Herbert M. Fearon JA, et al. Plast Reconstr Surg. 2022 Aug 1;150(2):381e-386e. doi: 10.1097/PRS.0000000000009367. Epub 2022 Jun 8. Plast Reconstr Surg. 2022. PMID: 35671456 Review.
Saethre-Chotzen syndrome.
Reardon W, Winter RM. Reardon W, et al. J Med Genet. 1994 May;31(5):393-6. doi: 10.1136/jmg.31.5.393. J Med Genet. 1994. PMID: 8064818 Free PMC article. Review. No abstract available.
161 results