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Quoted phrase not found in phrase index: "Multiple synostoses syndrome 4"
Page 1
The versatile RECQL4.
Kellermayer R. Kellermayer R. Genet Med. 2006 Apr;8(4):213-6. doi: 10.1097/01.gim.0000214457.58378.1a. Genet Med. 2006. PMID: 16617241 Free article. Review.
Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold syndrome also. Although these disorders represent distinct genetic entities, clinical observations have delineated highly variab …
Interestingly, mutations in RECQL4 have recently been revealed not only in Rothmund-Thomson-, but RAPADILINO-, and cases of Baller-Gerold …
Monobloc Differential Distraction Osteogenesis.
Polley JW, Figueroa AA, Girotto JA, Dietze-Fiedler ML. Polley JW, et al. J Craniofac Surg. 2022 Jan-Feb 01;33(1):270-275. doi: 10.1097/SCS.0000000000008111. J Craniofac Surg. 2022. PMID: 34967523
Monobloc reconstruction, when planned appropriately, can simultaneously and definitively address multiple functional and aesthetic deficiencies in these patients. The application of distraction has reduced the morbidity experienced with traditional monobloc surgery. ...For …
Monobloc reconstruction, when planned appropriately, can simultaneously and definitively address multiple functional and aesthetic de …
Understanding craniosynostosis as a growth disorder.
Flaherty K, Singh N, Richtsmeier JT. Flaherty K, et al. Wiley Interdiscip Rev Dev Biol. 2016 Jul;5(4):429-59. doi: 10.1002/wdev.227. Epub 2016 Mar 22. Wiley Interdiscip Rev Dev Biol. 2016. PMID: 27002187 Free PMC article. Review.
Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and includes various anomalies of the soft and hard tissues of the head. Steady progress in the field has resulted in identifying gene mutations …
Craniosynostosis is a condition of complex etiology that always involves the premature fusion of one or multiple cranial sutures and …
Non-syndromic craniosynostosis in children: Scoping review.
Garrocho-Rangel A, Manriquez-Olmos L, Flores-Velazquez J, Rosales-Berber MA, Martinez-Rider R, Pozos-Guillen A. Garrocho-Rangel A, et al. Med Oral Patol Oral Cir Bucal. 2018 Jul 1;23(4):e421-e428. doi: 10.4317/medoral.22328. Med Oral Patol Oral Cir Bucal. 2018. PMID: 29924758 Free PMC article. Review.
The affected infant exhibits abnormal head shape at time of birth or shortly thereafter. It can be observed in normal individuals (non-syndromic CS or NSCS) or as a part of a multisystem syndrome. The purposes of the present article were to carry out a scopin …
The affected infant exhibits abnormal head shape at time of birth or shortly thereafter. It can be observed in normal individuals (no …
Sanjad Sakati syndrome and sleep-disordered breathing: an undisclosed association.
Al-Yaarubi S, Al-Abri AS, Al-Kindi H, Al-Abri M, Naz T, Khater D. Al-Yaarubi S, et al. Sleep Breath. 2022 Jun;26(2):815-821. doi: 10.1007/s11325-021-02463-4. Epub 2021 Aug 9. Sleep Breath. 2022. PMID: 34368942
BACKGROUND: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding cofactor E) gene. Reported cases were almost exclusively of Middle-Eastern and Arabian children of consanguineous parents. We report the clin …
BACKGROUND: Sanjad Sakati syndrome (SSS) is a rare autosomal recessive genetic disorder caused by mutation in TBCE (tubulin folding c …
Pfeiffer syndrome: analysis of a clinical series and development of a classification system.
Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Greig AV, et al. J Craniofac Surg. 2013 Jan;24(1):204-15. doi: 10.1097/SCS.0b013e31826704be. J Craniofac Surg. 2013. PMID: 23348287
Among the craniosynostosis syndromes, Pfeiffer syndrome is notable because of high mortality and the need for multiple surgical interventions. ...Type A patients did not have any change in postoperative functional outcomes (mean preoperative score 1.6, …
Among the craniosynostosis syndromes, Pfeiffer syndrome is notable because of high mortality and the need for multiple …
P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.
Miller WL. Miller WL. Sci Signal. 2012 Oct 23;5(247):pt11. doi: 10.1126/scisignal.2003318. Sci Signal. 2012. PMID: 23092891 Review.
Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combination must be studied individually. Human POR transcription, initiated from an untranslated exon, is regulated by Smad3/4, thyroid r …
Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combi …
The Baller-Gerold syndrome.
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y. Van Maldergem L, et al. J Med Genet. 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. J Med Genet. 1992. PMID: 1583650 Free PMC article.
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. ...Extensive agenesis of the frontal and parietal bones, resulting in a very l …
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy compl …
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P. Timberlake AT, et al. Am J Hum Genet. 2023 May 4;110(5):846-862. doi: 10.1016/j.ajhg.2023.03.017. Epub 2023 Apr 21. Am J Hum Genet. 2023. PMID: 37086723 Free PMC article.
Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian forms of syndromic CS are well described, but a genetic etiology remains elusive in a substantial fraction of probands. Analysis of exome sequence data from 526 proband-parent trios with …
Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian forms of syndromic CS are well described, but …
A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).
Potti TA, Petty EM, Lesperance MM. Potti TA, et al. Hum Mutat. 2011 Aug;32(8):877-86. doi: 10.1002/humu.21515. Epub 2011 Jun 21. Hum Mutat. 2011. PMID: 21538686 Free article. Review.
The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet. ...These include (1) proximal symphalangism; (2) multiple synostoses syndrome 1; (3) stapes ankylo …
The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of …
65 results