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

Year Number of Results
1843 1
1858 2
1868 1
1873 1
1876 1
1880 3
1881 1
1885 2
1886 1
1887 2
1889 3
1891 1
1892 4
1893 4
1894 1
1895 4
1896 10
1897 7
1898 11
1899 8
1900 10
1901 12
1902 8
1903 1
1904 5
1905 14
1906 15
1907 10
1908 6
1909 4
1910 7
1911 11
1912 20
1913 23
1914 18
1915 24
1916 32
1917 20
1918 22
1919 22
1920 22
1921 26
1922 21
1923 18
1924 16
1925 17
1926 35
1927 26
1928 35
1929 29
1930 32
1931 39
1932 34
1933 49
1934 39
1935 41
1936 28
1937 43
1938 38
1939 37
1940 52
1941 44
1942 30
1943 39
1944 52
1945 106
1946 256
1947 319
1948 343
1949 305
1950 406
1951 556
1952 627
1953 760
1954 784
1955 791
1956 924
1957 994
1958 952
1959 1083
1960 1186
1961 1369
1962 1403
1963 1720
1964 2067
1965 2951
1966 3953
1967 5205
1968 7348
1969 10085
1970 10803
1971 12651
1972 13945
1973 14302
1974 15519
1975 18466
1976 17419
1977 17169
1978 16897
1979 17980
1980 18315
1981 18792
1982 20978
1983 23669
1984 25165
1985 25685
1986 26489
1987 27610
1988 29397
1989 33556
1990 35380
1991 36390
1992 37514
1993 37988
1994 38076
1995 39286
1996 38764
1997 37995
1998 39038
1999 39132
2000 42114
2001 43129
2002 43508
2003 46609
2004 48557
2005 52784
2006 56492
2007 58987
2008 62454
2009 65196
2010 69460
2011 74197
2012 78431
2013 80675
2014 80336
2015 80366
2016 79742
2017 79794
2018 80886
2019 81434
2020 91172
2021 88240
2022 70288
2023 62720
2024 22581

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2,292,680 results

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Page 1
Holoprosencephaly.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B13-B16. doi: 10.1016/j.ajog.2020.08.178. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168217 Review. No abstract available.
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR. Fouda MA, et al. World Neurosurg. 2022 Mar;159:48-53. doi: 10.1016/j.wneu.2021.12.062. Epub 2021 Dec 22. World Neurosurg. 2022. PMID: 34954057 Review.
Rhombencephalosynapsis is a rare congenital anomaly, characterized by partial or total agenesis of the cerebellar vermis with midline fusion of the cerebellar hemispheres, dentate nuclei, and the superior cerebellar peduncles, creating the distinctive keyhole appearance of the fo …
Rhombencephalosynapsis is a rare congenital anomaly, characterized by partial or total agenesis of the cerebellar vermis with midline fusion …
Neuropathology of holoprosencephaly.
Fallet-Bianco C. Fallet-Bianco C. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):214-228. doi: 10.1002/ajmg.c.31623. Am J Med Genet C Semin Med Genet. 2018. PMID: 30182440 Review.
Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage of the forebrain with failure to form two separate distinct hemispheres. ...
Holoprosencephaly (HPE) is a primary disorder of neural induction and patterning of the rostral neural tube resulting in noncleavage …
Sonic hedgehog signaling in craniofacial development.
Xu J, Iyyanar PPR, Lan Y, Jiang R. Xu J, et al. Differentiation. 2023 Sep-Oct;133:60-76. doi: 10.1016/j.diff.2023.07.002. Epub 2023 Jul 13. Differentiation. 2023. PMID: 37481904 Review.
Mutations in SHH and several other genes encoding components of the Hedgehog signaling pathway have been associated with holoprosencephaly syndromes, with craniofacial anomalies ranging in severity from cyclopia to facial cleft to midfacial and mandibular hypoplasia …
Mutations in SHH and several other genes encoding components of the Hedgehog signaling pathway have been associated with holoprosencephal …
Monosomy 18p.
Turleau C. Turleau C. Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. Orphanet J Rare Dis. 2008. PMID: 18284672 Free PMC article. Review.
Parental transmission of the 18p- syndrome has been reported. Cytogenetic analysis is necessary to make a definite diagnosis. ...Deletion 18p can be detected prenatally by amniocentesis or chorionic villus sampling and cytogenetic testing. Differential diagnosis may includ …
Parental transmission of the 18p- syndrome has been reported. Cytogenetic analysis is necessary to make a definite diagnosis. ...Dele …
Syndromes associated with holoprosencephaly.
Kruszka P, Muenke M. Kruszka P, et al. Am J Med Genet C Semin Med Genet. 2018 Jun;178(2):229-237. doi: 10.1002/ajmg.c.31620. Epub 2018 May 17. Am J Med Genet C Semin Med Genet. 2018. PMID: 29770994 Free PMC article.
Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. ...Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and …
Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated find …
Developmental disorders of the dentition: an update.
Klein OD, Oberoi S, Huysseune A, Hovorakova M, Peterka M, Peterkova R. Klein OD, et al. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):318-32. doi: 10.1002/ajmg.c.31382. Epub 2013 Oct 4. Am J Med Genet C Semin Med Genet. 2013. PMID: 24124058 Free PMC article. Review.
As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is followed by a discussion of isolated as well as syndromic tooth agenesis, including Van der Woude syndrome (VWS), ectoder …
As an introduction, we describe general insights into the genetics of tooth development obtained from mouse and zebrafish models. This is fo …
Cilia, ciliopathies and hedgehog-related forebrain developmental disorders.
Andreu-Cervera A, Catala M, Schneider-Maunoury S. Andreu-Cervera A, et al. Neurobiol Dis. 2021 Mar;150:105236. doi: 10.1016/j.nbd.2020.105236. Epub 2020 Dec 28. Neurobiol Dis. 2021. PMID: 33383187 Free article. Review.
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in holoprosencephaly, a condition defined as a defect in the formation of midline structures of the forebrai …
Development of the forebrain critically depends on the Sonic Hedgehog (Shh) signaling pathway, as illustrated in humans by the frequent pert …
Mosaicism in Hartsfield syndrome.
Harris E, Richardson R, Annavarapu S, Tellez J, Butteriss D, Hannon T, Splitt M. Harris E, et al. Eur J Med Genet. 2022 May;65(5):104491. doi: 10.1016/j.ejmg.2022.104491. Epub 2022 Mar 23. Eur J Med Genet. 2022. PMID: 35338003
Hartsfield syndrome is a rare condition characterised by the co-occurrence of ectrodactyly and holoprosencephaly spectrum disorders; cleft lip and palate is a common associated feature. ...To date 37 individuals have been reported, including two instances of germlin …
Hartsfield syndrome is a rare condition characterised by the co-occurrence of ectrodactyly and holoprosencephaly spectrum diso …
Holoprosencephaly and septo-optic dysplasia.
Fitz CR. Fitz CR. Neuroimaging Clin N Am. 1994 May;4(2):263-81. Neuroimaging Clin N Am. 1994. PMID: 8081628 Review.
Primary imaging findings include optic nerve hypoplasia and absent septum pellucidum. Septo-optic dysplasia somewhat resembles lobar holoprosencephaly. Septo-optic dysplasia is more common than holoprosencephaly. Isolated absence of the septum pellucidum is a …
Primary imaging findings include optic nerve hypoplasia and absent septum pellucidum. Septo-optic dysplasia somewhat resembles lobar holo …
2,292,680 results
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