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Quoted phrase not found in phrase index: "RAB23-related Carpenter syndrome"
Page 1
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO. Jenkins D, et al. Hum Mutat. 2011 Apr;32(4):E2069-78. doi: 10.1002/humu.21457. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21412941 Free PMC article.
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases. ...We prov …
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, ob …
Prenatal findings in carpenter syndrome and a novel mutation in RAB23.
Haye D, Collet C, Sembely-Taveau C, Haddad G, Denis C, Soulé N, Suc AL, Listrat A, Toutain A. Haye D, et al. Am J Med Genet A. 2014 Nov;164A(11):2926-30. doi: 10.1002/ajmg.a.36726. Epub 2014 Aug 28. Am J Med Genet A. 2014. PMID: 25168863
We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth …
We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femor …
Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.
Chen S, Venkatesan A, Lin YQ, Xie J, Neely G, Banerjee S, Bhat MA. Chen S, et al. J Neurosci. 2022 Sep 14;42(37):7016-7030. doi: 10.1523/JNEUROSCI.0442-22.2022. Epub 2022 Aug 9. J Neurosci. 2022. PMID: 35944997 Free PMC article.
In humans, MEGF8 mutations cause a rare genetic disorder called Carpenter syndrome, which is frequently associated with abnormal left-right patterning, cardiac defects, and learning disabilities. ...Our studies provide insights into human MEGF8 functions and potenti …
In humans, MEGF8 mutations cause a rare genetic disorder called Carpenter syndrome, which is frequently associated with abnorm …
Thyroid autoimmunity and polyglandular endocrine syndromes.
Wémeau JL, Proust-Lemoine E, Ryndak A, Vanhove L. Wémeau JL, et al. Hormones (Athens). 2013 Jan-Mar;12(1):39-45. doi: 10.1007/BF03401285. Hormones (Athens). 2013. PMID: 23624130 Free article. Review.
Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to insulinodependent diabetes, premature ovarian failure, Addison's disease (Schmidt syndrome, or Carpenter syndrome if associat …
Thyroid disorders, which are the most frequent expression of adult polyendocrine syndrome type 2, occur concomitantly with or secondarily to …
Trigonocephaly - Our Experience and Treatment in the Republic of Macedonia.
Mircevsk V, Zogovska E, Chaparoski A, Micunovic M, Filipce V, Mirchevski MM, Kostov M, Мicunovic L. Mircevsk V, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017 Mar 1;38(1):35-40. doi: 10.1515/prilozi-2017-0004. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2017. PMID: 28593893 Free article.
Our material: During a period of 20 years (from 1996 to 2015) at the Pediatric department of the Clinic for Neurosurgery in Skopje, we observed 18 babies with trigonocephaly, including one with Carpenter syndrome and trigonocephaly, 14 males and 4 females. .. …
Our material: During a period of 20 years (from 1996 to 2015) at the Pediatric department of the Clinic for Neurosurgery in Skopje, we ob …
RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.
Alessandri JL, Dagoneau N, Laville JM, Baruteau J, Hébert JC, Cormier-Daire V. Alessandri JL, et al. Am J Med Genet A. 2010 Apr;152A(4):982-6. doi: 10.1002/ajmg.a.33327. Am J Med Genet A. 2010. PMID: 20358613
We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter syndrome. All children presented with acrocephaly and polysyndactyly. ...We conclude from the report of this large unique family with fo …
We report here on a RAB23 mutation (c.86dupA) present in the homozygote state in four relatives of Comorian origin with Carpenter …
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Cotrina-Vinagre FJ, Rodríguez-García ME, Martín-Hernández E, Durán-Aparicio C, Merino-López A, Medina-Benítez E, Martínez-Azorín F. Cotrina-Vinagre FJ, et al. Mol Genet Metab. 2021 Jun;133(2):201-210. doi: 10.1016/j.ymgme.2021.02.007. Epub 2021 Feb 27. Mol Genet Metab. 2021. PMID: 33707149
Variant in PDI (protein encoded by P4HB) has been associated with CLCRP1 (Cole-Carpenter syndrome-1), a type of severe OI. An increase of COL1A2 protein retention was observed in the patient's fibroblasts. ...
Variant in PDI (protein encoded by P4HB) has been associated with CLCRP1 (Cole-Carpenter syndrome-1), a type of severe OI. An …
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, Van Der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH. May M, et al. Hum Mol Genet. 2015 Sep 1;24(17):4848-61. doi: 10.1093/hmg/ddv208. Epub 2015 Jun 8. Hum Mol Genet. 2015. PMID: 26056227 Free PMC article.
Miles-Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. ...Because several of the behavioral defects were consistent with hyperactivity, we examined the underlying neuronal defects an …
Miles-Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to …
Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns.
Higurashi M, Oda M, Iijima K, Iijima S, Takeshita T, Watanabe N, Yoneyama K. Higurashi M, et al. Brain Dev. 1990;12(6):770-3. doi: 10.1016/s0387-7604(12)80004-0. Brain Dev. 1990. PMID: 2092586
There were 29 cases with trisomy-21; 5 cases with trisomy-13 syndrome; 5 with trisomy-18 syndrome; 2 with cri-du-chat syndrome; and one each with partial monosomy 4p, partial trisomy 5p, partial trisomy 6p, partial trisomy 9p, partial trisomy 9q, partial monosomy 10p, and partial …
There were 29 cases with trisomy-21; 5 cases with trisomy-13 syndrome; 5 with trisomy-18 syndrome; 2 with cri-du-chat syndrome; and one each …
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.
Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO. Twigg SR, et al. Am J Hum Genet. 2012 Nov 2;91(5):897-905. doi: 10.1016/j.ajhg.2012.08.027. Epub 2012 Oct 11. Am J Hum Genet. 2012. PMID: 23063620 Free PMC article.
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet; many other clinical features occur, and the most frequent include obesity, umbilical hernia …
Carpenter syndrome is an autosomal-recessive multiple-congenital-malformation disorder characterized by multisuture craniosyno …
15 results