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Quoted phrase not found in phrase index: "FG syndrome 5"
Page 1
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.
Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE. Clark RD, et al. Genet Med. 2009 Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90. Genet Med. 2009. PMID: 19938245 Free PMC article.
FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. ...FG syndrome has a recognizable dysmorphic phenotype with a high incidence of congenital anomalies. ...
FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the …
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome).
Graham JM Jr, Clark RD, Moeschler JB, Rogers RC. Graham JM Jr, et al. Am J Med Genet C Semin Med Genet. 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. Am J Med Genet C Semin Med Genet. 2010. PMID: 20981778 Free PMC article. Review.
[Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the original family reported in 1974. The previously described behavio …
[Risheg et al. (2007); Nature Genetics 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz- …
Genitourinary anomalies of pediatric FG syndrome.
Smith JF, Wayment RO, Cartwright PC, Snow BW, Opitz JM. Smith JF, et al. J Urol. 2007 Aug;178(2):656-9. doi: 10.1016/j.juro.2007.04.007. Epub 2007 Jun 15. J Urol. 2007. PMID: 17574621
PURPOSE: The FG syndrome, also known as Opitz-Kaveggia syndrome, is an X-linked disorder characterized by developmental delay, congenital hypotonia, characteristic facial appearance, relative macrocephaly and anomalies affecting the genitourinar …
PURPOSE: The FG syndrome, also known as Opitz-Kaveggia syndrome, is an X-linked disorder characterized by …
FG syndrome update 1988: note of 5 new patients and bibliography.
Opitz JM, Richieri-da Costa A, Aase JM, Benke PJ. Opitz JM, et al. Am J Med Genet. 1988 May-Jun;30(1-2):309-28. doi: 10.1002/ajmg.1320300132. Am J Med Genet. 1988. PMID: 3052062 Review.
At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present knowledge is largely based on propositi. ...Only a half hundred or so FG syndrome patients are k …
At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenot …
Clinical and behavioral characteristics in FG syndrome.
Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. Graham JM Jr, et al. Am J Med Genet. 1999 Aug 27;85(5):470-5. Am J Med Genet. 1999. PMID: 10405444
FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. ...Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described thre …
FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. ...Affabil …
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 gene.
Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, Moeschler JB, Opitz JM, Morford J, Simensen R, Rogers RC, Schwartz CE, Friez MJ, Stevenson RE. Graham JM Jr, et al. Am J Med Genet A. 2008 Dec 1;146A(23):3011-7. doi: 10.1002/ajmg.a.32553. Am J Med Genet A. 2008. PMID: 18973276 Free PMC article.
[Risheg et al. (2007); Nat Genet 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the family reported in 1974. ...Our findings reinforce the importance of tes …
[Risheg et al. (2007); Nat Genet 39:451-453] identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kavegg …
A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.
Chanchani SR, Xie H, Sekhon G, Melikishvili AM, Moyer Harasink S, Pall H, Giampietro PF. Chanchani SR, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1078. doi: 10.1002/mgg3.1078. Epub 2020 Jan 17. Mol Genet Genomic Med. 2020. PMID: 31951325 Free PMC article.
BACKGROUND: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with …
BACKGROUND: The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 …
Chiari I malformation in patients with FG syndrome.
Gottfried ON, Hedlund GL, Opitz JM, Walker ML. Gottfried ON, et al. J Neurosurg. 2005 Aug;103(2 Suppl):148-55. doi: 10.3171/ped.2005.103.2.0148. J Neurosurg. 2005. PMID: 16370281
OBJECT: The FG syndrome (FGS) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, macrocephaly, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personal …
OBJECT: The FG syndrome (FGS) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising c …
Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases.
Grifo JA, Giatras K, Tang YX, Krey LC. Grifo JA, et al. Hum Reprod. 1998 Jun;13(6):1656-9. doi: 10.1093/humrep/13.6.1656. Hum Reprod. 1998. PMID: 9688408
Preimplantation genetic diagnosis was performed in 61 day 3 embryos obtained by in-vitro fertilization from seven patient carriers of haemophilia, Marfan's syndrome, Bloch-Sulzemberg syndrome (incontinentia pigmentosa) or X chromosome-linked immune deficiency, retinitis pigmentos …
Preimplantation genetic diagnosis was performed in 61 day 3 embryos obtained by in-vitro fertilization from seven patient carriers of haemop …
Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy.
Loesch DZ, Hay DA, Sheffield LJ. Loesch DZ, et al. Am J Med Genet. 1992 Nov 15;44(5):543-50. doi: 10.1002/ajmg.1320440502. Am J Med Genet. 1992. PMID: 1481805
We present a fragile X family with unusual clinical manifestations. These findings, which often occur in the X-linked FG syndrome, include minor limb anomalies, cleft lip and palate, characteristic facial appearance, gastrointestinal problems and epilepsy, and intel …
We present a fragile X family with unusual clinical manifestations. These findings, which often occur in the X-linked FG syndrome …