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Quoted phrase not found in phrase index: "Seckel syndrome 9"
Page 1
Growth in individuals with Saul-Wilson syndrome.
Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Ferreira CR, et al. Am J Med Genet A. 2020 Sep;182(9):2110-2116. doi: 10.1002/ajmg.a.61754. Epub 2020 Jul 11. Am J Med Genet A. 2020. PMID: 32652690 Free PMC article.
Saul-Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia, characteristic facial findings, clubfoot, brachydactyly, bilateral cataracts, and hearing loss. ...
Saul-Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimeta …
Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.
Conrad D, Stanley C, Denney J, Quinn K. Conrad D, et al. J Clin Ultrasound. 2022 Mar;50(3):395-398. doi: 10.1002/jcu.23040. Epub 2021 Jul 8. J Clin Ultrasound. 2022. PMID: 34235748
Subsequent whole exome sequencing identified TRAIP gene variants implicating diagnosis of Seckel syndrome 9 (SCKL9). Prenatal testing in subsequent pregnancy identified one variant. ...
Subsequent whole exome sequencing identified TRAIP gene variants implicating diagnosis of Seckel syndrome 9 (SCKL9). Pr …
Seckel-like syndrome: a patient with precocious puberty associated with nonclassical congenital adrenal hyperplasia.
Adiyaman P, Berberoğlu M, Aycan Z, Evliyaoğlu O, Ocal G. Adiyaman P, et al. J Pediatr Endocrinol Metab. 2004 Jan;17(1):105-10. doi: 10.1515/jpem.2004.17.1.105. J Pediatr Endocrinol Metab. 2004. PMID: 14960029
She was admitted to our clinic three times. She was diagnosed as having Seckel-like syndrome and premature thelarche at the age of 8.9 years. ...This is the first report of hyperinsulinism, and probably NCCAH, in association with Seckel syndrome …
She was admitted to our clinic three times. She was diagnosed as having Seckel-like syndrome and premature thelarche at the ag …
Seckel syndrome with polyarteritis nodosa.
Kutlu R, Alkan A, Kutlu O, Yakinci C. Kutlu R, et al. Indian Pediatr. 2004 Nov;41(11):1158-61. Indian Pediatr. 2004. PMID: 15591669 Free article.
Seckel syndrome is a rare genetic disorder with a typical "bird-headed" appearance. ...Polyarteritis nodosa is systemic vasculitic disorder which also involves kidneys. We report a case of Seckel syndrome in a 9 year-old boy with renal involveme …
Seckel syndrome is a rare genetic disorder with a typical "bird-headed" appearance. ...Polyarteritis nodosa is systemic vascul …
Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies.
Brancati F, Castori M, Mingarelli R, Dallapiccola B. Brancati F, et al. Am J Med Genet A. 2005 Dec 15;139(3):212-5. doi: 10.1002/ajmg.a.31009. Am J Med Genet A. 2005. PMID: 16278902 Review.
We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generalized skeletal dysplasia, who developed a left hemiparesis. ...Review of 16 published patients with CVA affected by either Seckel syn …
We report on a 2 9/12-year-old boy with disproportionate short stature, microcephaly, subtle craniofacial dysmorphisms, and generaliz …
Requirement for functional DNA polymerase eta in genome-wide repair of UV-induced DNA damage during S phase.
Auclair Y, Rouget R, Belisle JM, Costantino S, Drobetsky EA. Auclair Y, et al. DNA Repair (Amst). 2010 Jul 1;9(7):754-64. doi: 10.1016/j.dnarep.2010.03.013. Epub 2010 Apr 24. DNA Repair (Amst). 2010. PMID: 20457011
We highlight a previous study from our laboratory demonstrating that UV-exposed, ATR-deficient Seckel syndrome fibroblasts, like XPV fibroblasts, manifest strong attenuation of GG-NER uniquely in S phase populations. We now present further evidence suggesting that d …
We highlight a previous study from our laboratory demonstrating that UV-exposed, ATR-deficient Seckel syndrome fibroblasts, li …
Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L. Faienza MF, et al. J Pediatr Endocrinol Metab. 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. J Pediatr Endocrinol Metab. 2013. PMID: 23612698
We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecrotic cirrhosis, diagnosed at birth as having Seckel syndrome, and subsequently confirmed as Majewski osteodysplastic primordia …
We report the case of a boy affected by severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphisms and postnecr …
Caroline Crachami, the Sicilian dwarf (1815-1824): was she really nine years old at death?
Berkovitz BK, Grigson C, Dean MC. Berkovitz BK, et al. Am J Med Genet. 1998 Apr 1;76(4):343-8. Am J Med Genet. 1998. PMID: 9545099
Caroline Crachami (C.C.) considered to have had the Seckel syndrome was one of the most extreme cases of dwarfism ever recorded. ...We conclude that the dental age of C.C. was similar to her chronological age and that at death she was about 3 and not 9 years …
Caroline Crachami (C.C.) considered to have had the Seckel syndrome was one of the most extreme cases of dwarfism ever recorde …