79 related articles for article (PubMed ID: 12575660)
21. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
Sivasli O; Ozer EA; Ozer A; Aydinlioglu H; Helvaci M
Genet Couns; 2007; 18(2):247-50. PubMed ID: 17710878
[TBL] [Abstract][Full Text] [Related]
22. Gene symbol: GLI3. Disease: Pallister-Hall syndrome.
Freese K; Driess S; Bornholdt D; Shoenle EJ; Seidel H; Tinschert S; Grzeschik KH; Kalff-Suske M
Hum Genet; 2003 Jan; 112(1):103. PubMed ID: 12575661
[No Abstract] [Full Text] [Related]
23. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P; Van Esch H; Huysmans C; Pijkels E; De Smet L; Van de Ven W; Devriendt K; Fryns JP
Eur J Med Genet; 2005; 48(4):377-87. PubMed ID: 16378922
[TBL] [Abstract][Full Text] [Related]
24. A Postzygotic SMO Mutation Caused the Original Case of Happle-Tinschert Syndrome.
Zenker M; Tinschert S; Wieland I; Schanze D; Happle R
Acta Derm Venereol; 2018 Apr; 98(5):534-535. PubMed ID: 29335739
[No Abstract] [Full Text] [Related]
25. Greig Cephalopolysyndactyly Syndrome with Oral Manifestations: A Rare Case Report.
Unni JV; Daryani D; Sreejan KC; Uthkal PM
Int J Appl Basic Med Res; 2020; 10(2):140-142. PubMed ID: 32566533
[TBL] [Abstract][Full Text] [Related]
26. The Greig cephalopolysyndactyly syndrome.
Pelz L; Krüger G; Götz J
Helv Paediatr Acta; 1986 Oct; 41(4):381-2. PubMed ID: 3025136
[No Abstract] [Full Text] [Related]
27. [Diagnosis of 9p- syndrome at birth. A new case].
Fernández Calderón E; Galán Gómez E; Carbonell Pérez JM; Sáenz Hurtado J; Ledesma Alcázar MC; Cardesa García JJ
An Pediatr (Barc); 2004 Aug; 61(2):194-6. PubMed ID: 15274895
[No Abstract] [Full Text] [Related]
28. [Polysyndactyly-dysmorphic craniofacies, Greig type].
Numabe H
Ryoikibetsu Shokogun Shirizu; 2001; (34 Pt 2):522-3. PubMed ID: 11528873
[No Abstract] [Full Text] [Related]
29. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.
Amador C; Mathews AM; Del Carmen Montoya M; Laughridge ME; Everman DB; Holden KR
J Child Neurol; 2008 Aug; 23(8):901-5. PubMed ID: 18660473
[TBL] [Abstract][Full Text] [Related]
30. Japanese family with Greig cephalopolysyndactyly syndrome, including bilateral seven toes, and esotropia, over three generations.
Muneuchi G; Suzuki S; Sato M; Tamai M; Igawa HH
Scand J Plast Reconstr Surg Hand Surg; 2006; 40(4):253-6. PubMed ID: 16912002
[TBL] [Abstract][Full Text] [Related]
31. The molecular basis of Pallister Hall associated polydactyly.
Hill P; Wang B; Rüther U
Hum Mol Genet; 2007 Sep; 16(17):2089-96. PubMed ID: 17588959
[TBL] [Abstract][Full Text] [Related]
32. Recent advances in craniofacial genetics.
Scheuerle AE
J Craniofac Surg; 1995 Nov; 6(6):440-2. PubMed ID: 9020731
[No Abstract] [Full Text] [Related]
33. Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome.
Porath B; Farooki S; Gener M; Amudhavalli SM; Grote L; Cooley LD; Ginn K; Farooqi MS
Clin Genet; 2020 Apr; 97(4):670-671. PubMed ID: 31825089
[TBL] [Abstract][Full Text] [Related]
34. A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.
Flenniken AM; Osborne LR; Anderson N; Ciliberti N; Fleming C; Gittens JE; Gong XQ; Kelsey LB; Lounsbury C; Moreno L; Nieman BJ; Peterson K; Qu D; Roscoe W; Shao Q; Tong D; Veitch GI; Voronina I; Vukobradovic I; Wood GA; Zhu Y; Zirngibl RA; Aubin JE; Bai D; Bruneau BG; Grynpas M; Henderson JE; Henkelman RM; McKerlie C; Sled JG; Stanford WL; Laird DW; Kidder GM; Adamson SL; Rossant J
Development; 2005 Oct; 132(19):4375-86. PubMed ID: 16155213
[TBL] [Abstract][Full Text] [Related]
35. Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.
Wieland I; Makarov R; Reardon W; Tinschert S; Goldenberg A; Thierry P; Wieacker P
Eur J Hum Genet; 2008 Feb; 16(2):184-91. PubMed ID: 18043713
[TBL] [Abstract][Full Text] [Related]
36. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
Garavelli L; Leask K; Zanacca C; Pedori S; Albertini G; Della Giustina E; Croci GF; Magnani C; Banchini G; Clayton-Smith J; Bocian M; Firth H; Gold JA; Hurst J
Genet Couns; 2005; 16(2):117-28. PubMed ID: 16080291
[TBL] [Abstract][Full Text] [Related]
37. Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome.
Tong TM; Hau EW; Lo IF; Chan DH; Lam ST
Chin Med J (Engl); 2005 Sep; 118(18):1499-506. PubMed ID: 16232326
[TBL] [Abstract][Full Text] [Related]
38. Leukocyte cDNA analysis of NSD1 derived from confirmed Sotos syndrome patients.
Duno M; Skovby F; Schwartz M
Ann Hum Genet; 2007 Nov; 71(Pt 6):713-8. PubMed ID: 17561922
[TBL] [Abstract][Full Text] [Related]
39. Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.
Sun M; Ma F; Zeng X; Liu Q; Zhao XL; Wu FX; Wu GP; Zhang ZF; Gu B; Zhao YF; Tian SH; Lin B; Kong XY; Zhang XL; Yang W; Lo WH; Zhang X
J Med Genet; 2008 Sep; 45(9):589-95. PubMed ID: 18417549
[TBL] [Abstract][Full Text] [Related]
40. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Mintz-Hittner HA; Semina EV; Frishman LJ; Prager TC; Murray JC
Ophthalmology; 2004 Apr; 111(4):828-36. PubMed ID: 15051220
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
