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

Year Number of Results
1966 1
1970 1
1975 1
1976 1
1977 1
1978 1
1979 1
1981 2
1982 4
1984 2
1986 1
1987 1
1989 2
1990 1
1991 2
1992 3
1993 7
1994 3
1995 2
1996 3
1997 6
1998 5
1999 9
2000 7
2001 8
2002 8
2003 10
2004 14
2005 16
2006 11
2007 18
2008 11
2009 18
2010 24
2011 22
2012 28
2013 24
2014 24
2015 46
2016 27
2017 28
2018 46
2019 46
2020 32
2021 50
2022 45
2023 39
2024 13

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585 results

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Quoted phrase not found in phrase index: "Congenital heart defect-round face-developmental delay syndrome"
Page 1
Turner syndrome: mechanisms and management.
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Gravholt CH, et al. Nat Rev Endocrinol. 2019 Oct;15(10):601-614. doi: 10.1038/s41574-019-0224-4. Epub 2019 Jun 18. Nat Rev Endocrinol. 2019. PMID: 31213699 Review.
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is associated with short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypo …
Turner syndrome is a rare condition in women that is associated with either complete or partial loss of one X chromosome, often in mo …
The Changing Face of Turner Syndrome.
Gravholt CH, Viuff M, Just J, Sandahl K, Brun S, van der Velden J, Andersen NH, Skakkebaek A. Gravholt CH, et al. Endocr Rev. 2023 Jan 12;44(1):33-69. doi: 10.1210/endrev/bnac016. Endocr Rev. 2023. PMID: 35695701 Review.
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare genetic condition and is associated with a wide range of clinical stigmata, such as short stature, ovarian dysgenesis, delayed puberty a …
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45,X) or parts thereof. It is considered a rare gen …
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and …
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made i …
Neonatal lupus erythematosus - practical guidelines.
Derdulska JM, Rudnicka L, Szykut-Badaczewska A, Mehrholz D, Nowicki RJ, Barańska-Rybak W, Wilkowska A. Derdulska JM, et al. J Perinat Med. 2021 Jan 18;49(5):529-538. doi: 10.1515/jpm-2020-0543. Print 2021 Jun 25. J Perinat Med. 2021. PMID: 33470961 Review.
CONTENTS: Clinical manifestations include skin lesions, congenital heart block, hepatobiliary involvement and cytopenias. Most of the disorders disappear spontaneously after clearance of maternal antibodies. ...Testing for antinuclear antibodies should be considered …
CONTENTS: Clinical manifestations include skin lesions, congenital heart block, hepatobiliary involvement and cytopenias. Most …
Noonan syndrome.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Roberts AE, et al. Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Lancet. 2013. PMID: 23312968 Free PMC article. Review.
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mu …
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning …
2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.
Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR, Goldschlager NF, Hamilton RM, Joglar JA, Kim RJ, Lee R, Marine JE, McLeod CJ, Oken KR, Patton KK, Pellegrini CN, Selzman KA, Thompson A, Varosy PD. Kusumoto FM, et al. Circulation. 2019 Aug 20;140(8):e382-e482. doi: 10.1161/CIR.0000000000000628. Epub 2018 Nov 6. Circulation. 2019. PMID: 30586772 Free article. No abstract available.
Fetal Alcohol Syndrome and Fetal Alcohol Spectrum Disorders.
Denny L, Coles S, Blitz R. Denny L, et al. Am Fam Physician. 2017 Oct 15;96(8):515-522. Am Fam Physician. 2017. PMID: 29094891 Free article.
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the most common nonheritable causes of intellectual disability. ...
Fetal alcohol syndrome (FAS) and fetal alcohol spectrum disorders (FASD) result from intrauterine exposure to alcohol and are the mos …
2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.
Kusumoto FM, Schoenfeld MH, Barrett C, Edgerton JR, Ellenbogen KA, Gold MR, Goldschlager NF, Hamilton RM, Joglar JA, Kim RJ, Lee R, Marine JE, McLeod CJ, Oken KR, Patton KK, Pellegrini CN, Selzman KA, Thompson A, Varosy PD. Kusumoto FM, et al. J Am Coll Cardiol. 2019 Aug 20;74(7):e51-e156. doi: 10.1016/j.jacc.2018.10.044. Epub 2018 Nov 6. J Am Coll Cardiol. 2019. PMID: 30412709 Free article. No abstract available.
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay. ...Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, p …
KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal ( …
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 a …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (hig …
585 results