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

Year Number of Results
1993 5
1995 1
2001 2
2002 2
2003 2
2004 1
2005 1
2006 1
2007 1
2010 1
2012 1
2014 4
2015 3
2016 2
2017 4
2018 3
2019 4
2020 4
2021 1
2022 2
2023 4
2024 3

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43 results

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Page 1
Cornelia de Lange syndrome.
Boyle MI, Jespersgaard C, Brøndum-Nielsen K, Bisgaard AM, Tümer Z. Boyle MI, et al. Clin Genet. 2015 Jul;88(1):1-12. doi: 10.1111/cge.12499. Epub 2014 Oct 28. Clin Genet. 2015. PMID: 25209348 Review.
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, …
Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affect …
Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.
Upadhyai P, Amiri EF, Guleria VS, Bielas SL, Girisha KM, Shukla A. Upadhyai P, et al. Clin Dysmorphol. 2020 Jul;29(3):127-131. doi: 10.1097/MCD.0000000000000327. Clin Dysmorphol. 2020. PMID: 32459673 Free PMC article. Review.
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial features, microcephaly, and developmental delay. Several congenital defects, including cardiac, ocular, skeletal ano …
The clinical phenotype of 1q21.1 microdeletion syndrome is highly heterogeneous. It is characterized by dysmorphic facial f …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and upli …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high foreh …
Developmental trajectories in 22q11.2 deletion.
Swillen A, McDonald-McGinn D. Swillen A, et al. Am J Med Genet C Semin Med Genet. 2015 Jun;169(2):172-81. doi: 10.1002/ajmg.c.31435. Epub 2015 May 18. Am J Med Genet C Semin Med Genet. 2015. PMID: 25989227 Free PMC article. Review.
Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities, most frequently velopharyngeal incompetence (VPI); immunodeficiency; hypocalcemia due to hypoparathyroidism; genitourinary anomalies; s …
Most common medical problems include: congenital heart disease, in particular conotruncal anomalies; palatal abnormalities …
Imaging findings in Down syndrome.
Radhakrishnan R, Towbin AJ. Radhakrishnan R, et al. Pediatr Radiol. 2014 May;44(5):506-21. doi: 10.1007/s00247-013-2859-y. Epub 2014 Apr 16. Pediatr Radiol. 2014. PMID: 24737033 Review.
Down syndrome, or trisomy 21, is the most common chromosomal anomaly and is characterized by intellectual disability and a typical facies. People with Down syndrome can have abnormalities of multiple organ systems. ...If the diagnosis is not made prenatally, …
Down syndrome, or trisomy 21, is the most common chromosomal anomaly and is characterized by intellectual disability and a typ …
Congenital heart defects in Kabuki syndrome.
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. Digilio MC, et al. Am J Med Genet. 2001 May 15;100(4):269-74. doi: 10.1002/ajmg.1265. Am J Med Genet. 2001. PMID: 11343317 Review.
Kabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenital heart defect (CHD), and skeletal malformations. ...Male preponderance was noted in patients with COA. In conclusion, CHD is a cardinal …
Kabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenital …
Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.
Greco M, Ferrara P, Farello G, Striano P, Verrotti A. Greco M, et al. Epilepsy Res. 2018 Jan;139:92-101. doi: 10.1016/j.eplepsyres.2017.11.016. Epub 2017 Dec 2. Epilepsy Res. 2018. PMID: 29212048 Review.
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability. It occurs approximately in 1 out of 5000 to 10,000 live births and is the most common subtelomeric microdeletion observed in human. Medica …
1p36 terminal deletion is a recently recognized syndrome with multiple congenital anomalies and intellectual disability …
Genetic factors in isolated and syndromic laryngeal cleft.
Li Y, Rui X, Li N. Li Y, et al. Paediatr Respir Rev. 2020 Feb;33:24-27. doi: 10.1016/j.prrv.2019.09.004. Epub 2019 Oct 8. Paediatr Respir Rev. 2020. PMID: 31734186 Review.
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. ...The involvement o …
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fus …
White-Sutton syndrome and congenital heart disease: case report and literature review.
Duan J, Ye Y, Liao J, Chen L, Zhao X, Liu C, Wen J. Duan J, et al. BMC Pediatr. 2023 Apr 4;23(1):158. doi: 10.1186/s12887-023-03972-9. BMC Pediatr. 2023. PMID: 37016333 Free PMC article. Review.
A review of the current literature revealed 18 cases of White-Sutton syndrome with POGZ variants and congenital heart disease, and we summarize their clinical features in this study. CONCLUSIONS: Our findings based on the present case and those in the literat …
A review of the current literature revealed 18 cases of White-Sutton syndrome with POGZ variants and congenital heart disease, …
Genetics and cardiac anomalies: the heart of the matter.
Prasad C, Chudley AE. Prasad C, et al. Indian J Pediatr. 2002 Apr;69(4):321-32. doi: 10.1007/BF02723219. Indian J Pediatr. 2002. PMID: 12019554 Review.
Over the last 25 years understanding the anatomical and physiological basis of a number of congenital cardiac anomalies has led to better care and outcome for the patients born with congenital cardiac defects. ...Chromosomal anomalies are more common in patie …
Over the last 25 years understanding the anatomical and physiological basis of a number of congenital cardiac anomalies has led to be …
43 results