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

Year Number of Results
1980 1
1983 1
1984 1
1995 1
2000 1
2006 1
2007 1
2008 1
2018 2
2021 1
2022 1
2023 1
2024 0

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12 results

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Page 1
Duplication 9q34 syndrome.
Allderdice PW, Eales B, Onyett H, Sprague W, Henderson K, Lefeuvre PA, Pal G. Allderdice PW, et al. Am J Hum Genet. 1983 Sep;35(5):1005-19. Am J Hum Genet. 1983. PMID: 6613995 Free PMC article.
Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens dislocation is not observed. Features at birth include: dolichocephaly, facial asymmetry, narrow horizontal palpebral fissures, micr …
Cardiovascular and ocular systems are minimally affected, erythema and heart murmurs occur, and ptosis and strabismus are frequent, but lens …
Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M. Pelc A, et al. Dent Med Probl. 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. Dent Med Probl. 2018. PMID: 30152628 Free article. Review.
The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms include hea …
The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline …
Long-term Surgical Outcomes in Patients of Centurion Syndrome: A Mystic Etiology of Epiphora in Young.
Singh M, Kaur M, Mehta A, Sharma M, Gupta P. Singh M, et al. Semin Ophthalmol. 2023 May;38(4):380-386. doi: 10.1080/08820538.2022.2102931. Epub 2022 Jul 24. Semin Ophthalmol. 2023. PMID: 35876053
CS was diagnosed clinically based on the anterior displacement of MCT, anterior dislocation of lacrimal punctum out of tear lake, prominent nasal bridge, beak sign, and synophyrs. All symptomatic patients were advised the anterior limb of MCT release with mod …
CS was diagnosed clinically based on the anterior displacement of MCT, anterior dislocation of lacrimal punctum out of tear lake, promine …
Quantitative dysmorphology assessment in Fabry disease.
Ries M, Moore DF, Robinson CJ, Tifft CJ, Rosenbaum KN, Brady RO, Schiffmann R, Krasnewich D. Ries M, et al. Genet Med. 2006 Feb;8(2):96-101. doi: 10.1097/01.gim.0000200950.25118.dd. Genet Med. 2006. PMID: 16481892 Free article.
RESULTS: The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of the ears, bushy eyebrows, recessed forehead, pronounced nasal angle, generous nose/bulbous nasal tip, prominent supraorbital ridges, shallow m …
RESULTS: The following dysmorphic features were identified (in order of descending frequency): periorbital fullness, prominent lobules of th …
Serial cloning of pigs by somatic cell nuclear transfer: restoration of phenotypic normality during serial cloning.
Cho SK, Kim JH, Park JY, Choi YJ, Bang JI, Hwang KC, Cho EJ, Sohn SH, Uhm SJ, Koo DB, Lee KK, Kim T, Kim JH. Cho SK, et al. Dev Dyn. 2007 Dec;236(12):3369-82. doi: 10.1002/dvdy.21308. Dev Dyn. 2007. PMID: 17849457 Free article.
Among them, a clone had a dimorphic facial appearance with severe hypertelorism and a broad prominent nasal bridge. The other clones looked normal. Second-generation (G2) scNT piglets were then produced using ear cells from a G1 piglet that had an abnormal no …
Among them, a clone had a dimorphic facial appearance with severe hypertelorism and a broad prominent nasal bridge. The …
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
Bae S, Yang A, Kim J, Lee HJ, Park HK. Bae S, et al. BMC Med Genomics. 2021 Dec 20;14(1):297. doi: 10.1186/s12920-021-01148-x. BMC Med Genomics. 2021. PMID: 34930245 Free PMC article. Review.
CASE PRESENTATION: A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion indentation, a prominent nasal bridge, a thin upper lip, low-set ears, an epicanthal fold, and cardiac malformations. . …
CASE PRESENTATION: A baby presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion …
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Koboldt DC, et al. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29305346 Free PMC article.
Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent. The p.R1036X variant has never been observed in healthy human populations and has been previously reported as a pathogenic mutation. .. …
Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent. Th …
Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature.
Wooldridge J, Zunich J. Wooldridge J, et al. Am J Med Genet. 1995 Apr 10;56(3):258-64. doi: 10.1002/ajmg.1320560304. Am J Med Genet. 1995. PMID: 7778585 Review.
The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ears, overfolded helices, epicanthal folds, pr …
The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight was 2,820 g, length 52 cm, and Apgar scores …
General anesthesia for a patient with deletion 6q syndrome in addition to laryngomalacia undergoing dental treatment.
Fujii-Abe K, Sasao M, Fukayama H. Fujii-Abe K, et al. J Oral Sci. 2008 Dec;50(4):493-5. doi: 10.2334/josnusd.50.493. J Oral Sci. 2008. PMID: 19106480 Free article.
Chromosome 6 deletions are very rare (1,2), and deletion 6q syndrome is clinically characterized by mental and/or neuromotor retardation and microcephaly (3). Other alterations frequently observed are decreased biparietal diameter, hypertelorism, hypotelorism, absent eyebr …
Chromosome 6 deletions are very rare (1,2), and deletion 6q syndrome is clinically characterized by mental and/or neuromotor retardation and …
Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis.
Kondo I, Shimakura Y, Hirano T, Kaneko M, Yabuta K. Kondo I, et al. Clin Genet. 1984 Feb;25(2):196-200. doi: 10.1111/j.1399-0004.1984.tb00485.x. Clin Genet. 1984. PMID: 6705254
A 2-year-old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, hypertelorism, strabismus, prominent nasal bridge, stubby nose, pointed chin, undescended testes and hydronephrosis, h …
A 2-year-old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, …
12 results