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

Year Number of Results
1806 1
1848 2
1929 1
1937 1
1939 1
1943 1
1945 3
1946 7
1947 9
1948 6
1949 9
1950 8
1951 6
1952 7
1953 22
1954 10
1955 6
1956 11
1957 7
1958 12
1959 13
1960 15
1961 11
1962 45
1963 90
1964 70
1965 51
1966 33
1967 43
1968 38
1969 28
1970 29
1971 42
1972 42
1973 41
1974 41
1975 35
1976 53
1977 33
1978 35
1979 26
1980 38
1981 37
1982 38
1983 30
1984 26
1985 40
1986 36
1987 34
1988 27
1989 24
1990 33
1991 30
1992 34
1993 52
1994 55
1995 32
1996 35
1997 41
1998 38
1999 43
2000 39
2001 48
2002 43
2003 34
2004 44
2005 45
2006 63
2007 56
2008 66
2009 63
2010 100
2011 108
2012 95
2013 95
2014 103
2015 115
2016 94
2017 112
2018 137
2019 156
2020 146
Text availability
Article attribute
Article type
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Search Results

3,261 results
Results by year
Filters applied: . Clear all The following term was not found in PubMed: Sanz-Cabrerizo
Page 1
Sirenomelia.
Gouri MS, Kumari KM, Rao SG, Devi U. Gouri MS, et al. Indian J Pathol Microbiol. 2009 Oct-Dec;52(4):579-80. doi: 10.4103/0377-4929.56124. Indian J Pathol Microbiol. 2009. PMID: 19805983 Free article. No abstract available.
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.
Kariminejad A, Szenker-Ravi E, Lekszas C, Tajsharghi H, Moslemi AR, Naert T, Tran HT, Ahangari F, Rajaei M, Nasseri M, Haaf T, Azad A, Superti-Furga A, Maroofian R, Ghaderi-Sohi S, Najmabadi H, Abbaszadegan MR, Vleminckx K, Nikuei P, Reversade B. Kariminejad A, et al. Am J Hum Genet. 2019 Dec 5;105(6):1294-1301. doi: 10.1016/j.ajhg.2019.10.013. Epub 2019 Nov 21. Am J Hum Genet. 2019. PMID: 31761294 Free PMC article.
Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia (PAPPA). ...In two consanguineous couples, we uncover distinct germline TBX4 coding mutations, p.Tyr113(∗) and p.Tyr127Asn, that segregated …
Here, we characterize a striking clinical entity in four fetuses with complete posterior amelia with pelvis and pulmonary hypoplasia …
Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods.
Rittler M, Campaña H, Poletta FA, Santos MR, Gili JA, Pawluk MS, Cosentino VR, Gimenez L, Lopez-Camelo JS. Rittler M, et al. Birth Defects Res. 2019 Mar 1;111(4):222-228. doi: 10.1002/bdr2.1442. Epub 2018 Dec 27. Birth Defects Res. 2019. PMID: 30589520
Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD + AB. ...Since BWD specifically associates with amelia, we propose that this defect and not any limb deficiency should be considered …
Association with caudal defects and lower limb amelia was observed for BWD, with cephalic defects and upper limb amputations for BWD …
Sirenomelia.
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A. Banerjee A, et al. Indian J Pediatr. 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. Indian J Pediatr. 2003. PMID: 12940384
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.
Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML. Bermejo-Sánchez E, et al. Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):288-304. doi: 10.1002/ajmg.c.30319. Epub 2011 Oct 14. Am J Med Genet C Semin Med Genet. 2011. PMID: 22002956 Free PMC article. Review.
This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. ...A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations o …
This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. ...A …
Identify the syndrome?
Chauhan L, Chauhan M. Chauhan L, et al. J Paediatr Child Health. 2016 Sep;52(9):908. doi: 10.1111/jpc.1_13116. J Paediatr Child Health. 2016. PMID: 27650149 No abstract available.
Use of Paley Classification and SUPERankle Procedure in the Management of Fibular Hemimelia.
Kulkarni RM, Arora N, Saxena S, Kulkarni SM, Saini Y, Negandhi R. Kulkarni RM, et al. J Pediatr Orthop. 2019 Oct;39(9):e708-e717. doi: 10.1097/BPO.0000000000001012. J Pediatr Orthop. 2019. PMID: 31503232
Sirenomelia.
Santra G, Pandit N, Sinha PK, Das MK. Santra G, et al. N Z Med J. 2011 Jul 29;124(1339):91-5. N Z Med J. 2011. PMID: 21952334
[Congenital tibial hemimelia].
Farr S, Ganger R, Grill F. Farr S, et al. Orthopade. 2014 Nov;43(11):1016-21. doi: 10.1007/s00132-014-3017-4. Orthopade. 2014. PMID: 25209017 Review. German.
[Sirenomelia].
García J, Romero-Araus J. García J, et al. Ginecol Obstet Mex. 1996 Sep;64:422-9. Ginecol Obstet Mex. 1996. PMID: 8964545 Spanish.
3,261 results
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