147 related articles for article (PubMed ID: 17159510)
1. Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.
Bowdin S; Phelan E; Watson R; McCreery KM; Reardon W
Clin Dysmorphol; 2007 Jan; 16(1):21-25. PubMed ID: 17159510
[TBL] [Abstract][Full Text] [Related]
2. Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.
Ishak GE; Dempsey JC; Shaw DW; Tully H; Adam MP; Sanchez-Lara PA; Glass I; Rue TC; Millen KJ; Dobyns WB; Doherty D
Brain; 2012 May; 135(Pt 5):1370-86. PubMed ID: 22451504
[TBL] [Abstract][Full Text] [Related]
3. Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature.
Lindsay F; Anderson I; Wentzensen IM; Suhrbier D; Stevens CA
Am J Med Genet A; 2020 Apr; 182(4):623-627. PubMed ID: 32003537
[TBL] [Abstract][Full Text] [Related]
4. Gómez-López-Hernández syndrome in a child born to consanguineous parents: new evidence for an autosomal-recessive pattern of inheritance?
de Mattos VF; Graziadio C; Machado Rosa RF; Lenhardt R; Alves RP; Trevisan P; Paskulin GA; Zen PR
Pediatr Neurol; 2014 Jun; 50(6):612-5. PubMed ID: 24690526
[TBL] [Abstract][Full Text] [Related]
5. Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.
Tan TY; McGillivray G; Goergen SK; White SM
Am J Med Genet A; 2005 Nov; 138(4):369-73. PubMed ID: 16158443
[TBL] [Abstract][Full Text] [Related]
6. Rhombencephalosynapsis.
Barth PG
Handb Clin Neurol; 2008; 87():53-65. PubMed ID: 18809018
[No Abstract] [Full Text] [Related]
7. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria.
Sukhudyan B; Jaladyan V; Melikyan G; Schlump JU; Boltshauser E; Poretti A
Eur J Pediatr; 2010 Dec; 169(12):1523-8. PubMed ID: 20652311
[TBL] [Abstract][Full Text] [Related]
8. Gómez-López-Hernández syndrome in a Japanese patient: a case report.
Kobayashi Y; Kawashima H; Magara S; Akasaka N; Tohyama J
Brain Dev; 2015 Mar; 37(3):356-8. PubMed ID: 24856766
[TBL] [Abstract][Full Text] [Related]
9. Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: a rare co-occurrence with bipartite parietal bone.
Abdel-Salam GM; Abdel-Hadi S; Thomas MM; Eid OM; Ali MM; Afifi HH
Am J Med Genet A; 2014 Feb; 164A(2):480-3. PubMed ID: 24311025
[TBL] [Abstract][Full Text] [Related]
10. Congenital Hydrocephalus: Gómez-López-Hernández syndrome. An underdiagnosed Syndrome. A clinical case.
Gálvez V C; Huete I; Hernández M
Rev Chil Pediatr; 2018 Feb; 89(1):92-97. PubMed ID: 29664509
[TBL] [Abstract][Full Text] [Related]
11. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
Tully HM; Dempsey JC; Ishak GE; Adam MP; Curry CJ; Sanchez-Lara P; Hunter A; Gripp KW; Allanson J; Cunniff C; Glass I; Millen KJ; Doherty D; Dobyns WB
Am J Med Genet A; 2012 Oct; 158A(10):2393-406. PubMed ID: 22965664
[TBL] [Abstract][Full Text] [Related]
12. Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Perrone E; Perez ABA; D'Almeida V; de Mello CB; Jacobina MAA; Loureiro RM; Burlin S; Migliavacca M; do Amaral Virmond L; Graziadio C; Pedroso JL; Mendes EL; Gomy I; de Macena Sobreira NL
Am J Med Genet A; 2021 Apr; 185(4):1047-1058. PubMed ID: 33381921
[TBL] [Abstract][Full Text] [Related]
13. Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia.
Saricam MH; Tekin B; Unver O; Ekinci G; Ergun T
Pediatr Dermatol; 2015; 32(6):e251-4. PubMed ID: 26391554
[TBL] [Abstract][Full Text] [Related]
14. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria.
Rush ET; Adam MP; Clark RD; Curry C; Hartmann JE; Dobyns WB; Olney AH
Am J Med Genet A; 2013 Feb; 161A(2):320-6. PubMed ID: 23292994
[TBL] [Abstract][Full Text] [Related]
15. Gomez-Lopez-Hernandez syndrome.
Whetsell W; Saigal G; Godinho S
Pediatr Radiol; 2006 Jun; 36(6):552-4. PubMed ID: 16607507
[TBL] [Abstract][Full Text] [Related]
16. Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.
Schell-Apacik CC; Cohen M; Vojta S; Ertl-Wagner B; Klopocki E; Heinrich U; von Voss H
Eur J Pediatr; 2008 Jan; 167(1):123-6. PubMed ID: 17483961
[TBL] [Abstract][Full Text] [Related]
17. Prenatal Diagnosis of Gómez-López-Hernández Syndrome.
Pomar L; Rieder W; Dubruc E; Giuliano F; Atallah I; Lebon S; Vial Y
Fetal Diagn Ther; 2023; 50(2):92-97. PubMed ID: 37062278
[TBL] [Abstract][Full Text] [Related]
18. Rhomboencephalosynapsis: Review of the Literature.
Fouda MA; Kim TY; Cohen AR
World Neurosurg; 2022 Mar; 159():48-53. PubMed ID: 34954057
[TBL] [Abstract][Full Text] [Related]
19. Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
Pasquier L; Marcorelles P; Loget P; Pelluard F; Carles D; Perez MJ; Bendavid C; de La Rochebrochard C; Ferry M; David V; Odent S; Laquerrière A
Acta Neuropathol; 2009 Feb; 117(2):185-200. PubMed ID: 19057916
[TBL] [Abstract][Full Text] [Related]
20. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype.
Brocks D; Irons M; Sadeghi-Najad A; McCauley R; Wheeler P
Am J Med Genet; 2000 Oct; 94(5):405-8. PubMed ID: 11050627
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
