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

Year Number of Results
1989 1
1992 1
1995 1
1996 1
1997 1
1998 1
1999 2
2000 1
2001 1
2002 1
2005 2
2006 1
2008 2
2009 2
2010 4
2011 2
2013 2
2014 3
2017 1
2019 2
2020 2
2022 1
2024 0

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33 results

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Page 1
VACTERL/VATER Association.
Solomon BD. Solomon BD. Orphanet J Rare Dis. 2011 Aug 16;6:56. doi: 10.1186/1750-1172-6-56. Orphanet J Rare Dis. 2011. PMID: 21846383 Free PMC article. Review.
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome, deletion 22q11.2 syndrome, Fanconi anemia, Feingold syndrome, Fryns syndrome, MURCS association, oculo-auriculo-vert …
This differential diagnosis includes (but is not limited to) Baller-Gerold syndrome, CHARGE syndrome, Currarino syndrome …
GLI3-related polydactyly: a review.
Al-Qattan MM, Shamseldin HE, Salih MA, Alkuraya FS. Al-Qattan MM, et al. Clin Genet. 2017 Nov;92(5):457-466. doi: 10.1111/cge.12952. Epub 2017 Feb 22. Clin Genet. 2017. PMID: 28224613 Review.
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. ...
These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister- …
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN. Leboulanger N, et al. Orphanet J Rare Dis. 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. Orphanet J Rare Dis. 2011. PMID: 22151899 Free PMC article. Review.
The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. ...
The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VAT …
Hedgehog signaling update.
Cohen MM Jr. Cohen MM Jr. Am J Med Genet A. 2010 Aug;152A(8):1875-914. doi: 10.1002/ajmg.a.32909. Am J Med Genet A. 2010. PMID: 20635334 Review.
Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, Smith-Lemli-Opitz syndrome, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Carpenter sy …
Disorders associated with the hedgehog signaling network follow, including nevoid basal cell carcinoma syndrome, holoprosencephaly, S …
Pallister-Hall syndrome has gone the way of modern medical genetics.
Hall JG. Hall JG. Am J Med Genet C Semin Med Genet. 2014 Dec;166C(4):414-8. doi: 10.1002/ajmg.c.31419. Epub 2014 Nov 25. Am J Med Genet C Semin Med Genet. 2014. PMID: 25424727 Review.
The Pallister-Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. ...
The Pallister-Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. …
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
Pineda-Alvarez DE, Dubourg C, David V, Roessler E, Muenke M. Pineda-Alvarez DE, et al. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):93-101. doi: 10.1002/ajmg.c.30253. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104604 Free PMC article. Review.
This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that are associated with HPE (e.g., Pallister-Hall syndrome, Smith-Lemli-Opitz syndrome and others), and molecular s …
This usually includes analysis of chromosomes by high-resolution karyotyping, clinical assessment to rule-out well recognized syndromes that …
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.
Consales A, Ardemani G, Cinnante CM, Catalano MR, Giavoli C, Villa R, Iascone M, Fontana C, Bedeschi MF, Fumagalli M. Consales A, et al. BMC Neurol. 2022 Mar 24;22(1):118. doi: 10.1186/s12883-022-02618-0. BMC Neurol. 2022. PMID: 35331151 Free PMC article. Review.
BACKGROUND: Pallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the GLI3 gene. ...In Pallister-Hall syndrome, dysplastic histogenetic processes responsible for hypothalamic hamartomas are …
BACKGROUND: Pallister-Hall syndrome (OMIM #146510) is a rare autosomal dominant condition caused by a mutation in the G …
Laryngeal cleft: evaluation and management.
Johnston DR, Watters K, Ferrari LR, Rahbar R. Johnston DR, et al. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):905-11. doi: 10.1016/j.ijporl.2014.03.015. Epub 2014 Mar 27. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24735606 Review.
Clefts of the larynx and trachea/esophagus can occur in isolation, as part of a syndrome (Opitz-Frias, VATER/VACTERL, Pallister Hall, CHARGE), or with other associated malformations (gastrointestinal, genitourinary, cardiac, craniofacial). ...
Clefts of the larynx and trachea/esophagus can occur in isolation, as part of a syndrome (Opitz-Frias, VATER/VACTERL, Pallister …
Case report and delineation of the congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome).
Iafolla K, Fratkin JD, Spiegel PK, Cohen MM Jr, Graham JM Jr. Iafolla K, et al. Am J Med Genet. 1989 Aug;33(4):489-99. doi: 10.1002/ajmg.1320330416. Am J Med Genet. 1989. PMID: 2688416 Review.
We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one case of a diencephalic nodule associated with craniofacial malformations. ...Clinical manifestations in infants with Pallister-Hall …
We report one new case of congenital hypothalamic hamartoblastoma syndrome (Pallister-Hall syndrome) and one cas …
The Greig cephalopolysyndactyly syndrome.
Biesecker LG. Biesecker LG. Orphanet J Rare Dis. 2008 Apr 24;3:10. doi: 10.1186/1750-1172-3-10. Orphanet J Rare Dis. 2008. PMID: 18435847 Free PMC article. Review.
GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. ...Differential diag …
GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The di …
33 results