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Year Number of Results
1977 1
1984 2
1986 1
1987 1
1993 2
1994 2
1996 1
1997 2
1999 2
2000 1
2002 3
2003 2
2004 2
2005 4
2006 3
2007 3
2009 1
2010 1
2011 1
2012 5
2014 4
2015 7
2016 4
2017 3
2018 1
2019 2
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2023 2
2024 1

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66 results

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Page 1
Prenatal diagnosis.
Chueh J. Chueh J. Curr Opin Obstet Gynecol. 2017 Apr;29(2):71-72. doi: 10.1097/GCO.0000000000000352. Curr Opin Obstet Gynecol. 2017. PMID: 28253207 No abstract available.
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care. Tang X, et al. J Med Genet. 2022 Feb;59(2):147-154. doi: 10.1136/jmedgenet-2020-107184. Epub 2020 Dec 15. J Med Genet. 2022. PMID: 33323469
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involved the liver (41.7%, n=25), central nervous system (26.7%, n=16), eyes (26.7%, n=16) and skeletal system (11.7%, n=7). Accidental det …
Overall, 45% of patients presented with isolated nephronophthisis (NPH), and 55% exhibited the extrarenal phenotype, which frequently involv …
A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.
Shen F, Yang Y, Li P, Zheng Y, Luo Z, Fu Y, Zhu G, Mei H, Chen S, Zhu Y. Shen F, et al. Mol Genet Genomic Med. 2022 Jan;10(1):e1850. doi: 10.1002/mgg3.1850. Epub 2021 Dec 24. Mol Genet Genomic Med. 2022. PMID: 34953066 Free PMC article.
Pleiotropy was observed as a re-evaluation of SMAD6 mutant families identified: (a) three families had axial skeletal malformations; (b) two families had polydactyly; and (c) eight families had other known malformations. CONCLUSION: SMAD6 was mutated in 42.11% RUS p …
Pleiotropy was observed as a re-evaluation of SMAD6 mutant families identified: (a) three families had axial skeletal malformations; (b) two …
Management of complications of congenital hand disorders.
Comer GC, Ladd AL. Comer GC, et al. Hand Clin. 2015 May;31(2):361-75. doi: 10.1016/j.hcl.2015.01.011. Hand Clin. 2015. PMID: 25934210 Review.
This article reviews treatment and presents complications seen in the treatment of 7 common congenital hand differences, including syndactyly, camptodactyly, ulnar and radial polydactyly, thumb hypoplasia, radial longitudinal deficiency, and epidermolysis bullosa. ...
This article reviews treatment and presents complications seen in the treatment of 7 common congenital hand differences, including syndactyl …
Bardet-Biedl syndrome: A clinical overview focusing on diagnosis, outcomes and best-practice management.
Shoemaker A. Shoemaker A. Diabetes Obes Metab. 2024 Apr;26 Suppl 2:25-33. doi: 10.1111/dom.15494. Epub 2024 Feb 21. Diabetes Obes Metab. 2024. PMID: 38383825 Review.
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, developmental delay and vision loss due to rod-cone dystrophy. ...
Bardet-Biedl syndrome (BBS) is a genetic disorder characterized by early-onset obesity, polydactyly, genital and kidney anomalies, de …
Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.
Garcia-Rodriguez R, Rodriguez-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia Cruz L, Santana Rodriguez A, Garcia-Hernandez JA. Garcia-Rodriguez R, et al. J Matern Fetal Neonatal Med. 2022 Jun;35(11):2162-2165. doi: 10.1080/14767058.2020.1774541. Epub 2020 Jun 4. J Matern Fetal Neonatal Med. 2022. PMID: 32495660
Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-contiguous gene Syndrome. We report a case in which, despite early polydactyly findings on week 16, the diagnosis was established during t …
Deletions over 1 Mb and involving other genes yield severe clinical cases, which are known collectively as Greig Cephalopolysyndactyly-conti …
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP. Chen CP. Taiwan J Obstet Gynecol. 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. Taiwan J Obstet Gynecol. 2007. PMID: 17389183 Free article. Review.
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasia, hepatic ductal proliferation, fibrosis and cysts, and polydactyly. ...Prenatal diagnosis of bilateral enlarged multicystic kid …
Meckel syndrome (MKS) is a lethal, autosomal recessive disorder characterized by occipital encephalocele, bilateral renal cystic dysplasi …
Lipofibromatous hamartoma: review of early diagnosis and treatment.
Razzaghi A, Anastakis DJ. Razzaghi A, et al. Can J Surg. 2005 Oct;48(5):394-9. Can J Surg. 2005. PMID: 16248139 Free PMC article. Review.
STUDY SELECTION: Articles that demonstrated institutional experience (epidemiologic, diagnostic and therapeutic, and complications) and those that provided general reviews were selected for inclusion. Of 501 identified articles, 42 fulfilled the review criteria. DATA EXTRA …
STUDY SELECTION: Articles that demonstrated institutional experience (epidemiologic, diagnostic and therapeutic, and complications) a …
Targeted prenatal diagnosis of Pallister-Killian syndrome.
Kucińska-Chahwan A, Bijok J, Dąbkowska S, Jóźwiak A, Ilnicka A, Nowakowska B, Jakiel G, Roszkowski T. Kucińska-Chahwan A, et al. Prenat Diagn. 2017 May;37(5):446-452. doi: 10.1002/pd.5030. Epub 2017 Mar 27. Prenat Diagn. 2017. PMID: 28233318
Rhizomelic limb shortening, diaphragmatic hernia, thickened nuchal fold, increased prenasal thickness, polydactyly and polyhydramnios were frequent and distinctive findings in fetuses with PKS. ...
Rhizomelic limb shortening, diaphragmatic hernia, thickened nuchal fold, increased prenasal thickness, polydactyly and polyhydramnios …
Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.
Florea L, Caba L, Gorduza EV. Florea L, et al. Genes (Basel). 2021 Aug 29;12(9):1353. doi: 10.3390/genes12091353. Genes (Basel). 2021. PMID: 34573333 Free PMC article. Review.
The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. ...
The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism …
66 results