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2. Full trisomy 22 in a malformed newborn female. Feret MA; Galán F; Aguilar MS; Serrano JL; Cidras M; Garcia R Ann Genet; 1991; 34(1):44-6. PubMed ID: 1952793 [TBL] [Abstract][Full Text] [Related]
3. Prenatal detection of Pierre Robin sequence with deletion Xp and additional trisomy 14q by telomere screening. Gerard-Blanluet M; Pipiras E; Levaillant JM; Joye N; Koubi V; Kanafani S; Vergnaud A; Verloes A; Gonzales M; Jeny R; Benzacken B Prenat Diagn; 2007 Nov; 27(11):1062-3. PubMed ID: 17705236 [No Abstract] [Full Text] [Related]
4. Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development. Ausems MG; Van Spijker HG; Dijkhuis HJ; Swanenburg De Veye HF; Bijlsma JB Genet Couns; 1996; 7(1):61-5. PubMed ID: 8652090 [TBL] [Abstract][Full Text] [Related]
5. Presentation of the isochromosome trisomy 18 syndrome in an infant with the Robin anomalad. Wiswell TE; Edwards RG Hawaii Med J; 1986 May; 45(5):126-7. PubMed ID: 3721853 [No Abstract] [Full Text] [Related]
6. Trisomy 22 confirmed by fluorescent in situ hybridization. Stratton RF; DuPont BR; Mattern VL; Young RS; McCourt JW; Moore CM Am J Med Genet; 1993 Apr; 46(1):109-12. PubMed ID: 8494030 [TBL] [Abstract][Full Text] [Related]
7. Trisomy 22 and facioauriculovertebral (Goldenhar) sequence. Kobrynski L; Chitayat D; Zahed L; McGregor D; Rochon L; Brownstein S; Vekemans M; Albert DL Am J Med Genet; 1993 Apr; 46(1):68-71. PubMed ID: 8494034 [TBL] [Abstract][Full Text] [Related]
8. Diaphragmatic hernia and Fryns syndrome phenotype in partial trisomy 22. de Beaufort C; Schneider F; Chafai R; Colette JM; Delneste D; Pierquin G Genet Couns; 2000; 11(2):181-2. PubMed ID: 10893671 [No Abstract] [Full Text] [Related]
9. [Tetra-X syndrome with epilepsy, mental retardation and multiple dysmorphias]. Fehlow P; Miosge W; Walther F Klin Padiatr; 1993; 205(2):127-9. PubMed ID: 8487481 [TBL] [Abstract][Full Text] [Related]
10. [Pierre Robin syndrome with associated malformations]. Müntener M Schweiz Med Wochenschr; 1973 Oct; 103(43):1504-8. PubMed ID: 4757648 [No Abstract] [Full Text] [Related]
11. Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease. Wallerstein R; Desposito F; Aviv H; Schenk M; Wallerstein DF Cleft Palate Craniofac J; 1992 Jan; 29(1):77-9. PubMed ID: 1547253 [TBL] [Abstract][Full Text] [Related]
12. Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency. Kurian MA; O'Mahoney ES; Rustin P; Brown G; Treacy EP; King MD Eur J Paediatr Neurol; 2004; 8(1):55-9. PubMed ID: 15023375 [TBL] [Abstract][Full Text] [Related]
13. Pierre Robin sequence: a series of 117 consecutive cases. Holder-Espinasse M; Abadie V; Cormier-Daire V; Beyler C; Manach Y; Munnich A; Lyonnet S; Couly G; Amiel J J Pediatr; 2001 Oct; 139(4):588-90. PubMed ID: 11598609 [TBL] [Abstract][Full Text] [Related]
14. Marshall syndrome. Stratton RF; Lee B; Ramirez F Am J Med Genet; 1991 Oct; 41(1):35-8. PubMed ID: 1951461 [TBL] [Abstract][Full Text] [Related]
16. A distinct phenotype associated with partial trisomy 10q due to proximal direct duplication 10q11 --> q223? van Buggenhout G; Decock P; Fryns JP Genet Couns; 1996; 7(1):53-9. PubMed ID: 8652089 [TBL] [Abstract][Full Text] [Related]
17. [Aarskog syndrome in association with mental and psychological retardation, grand mal epilepsy and tardive dyskinesia and apparent radicular paralysis of the fibular nerve in torsion scoliosis]. Fehlow P; Miosge W; Walther F Padiatr Grenzgeb; 1993; 31(5):345-51. PubMed ID: 8202322 [TBL] [Abstract][Full Text] [Related]
18. Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients. Schrander-Stumpel C; van der Meer S; De Die-Smulders C; Meinecke P; Rupprecht E; Maroteaux P; Schrander J; Fryns JP Genet Couns; 1996; 7(1):71-2. PubMed ID: 8652092 [No Abstract] [Full Text] [Related]
19. A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations. Vaglio A; Milunsky A; Huang XL; Quadrelli A; Mechoso B; Maher TA; Quadrelli R Eur J Med Genet; 2008; 51(4):332-42. PubMed ID: 18316257 [TBL] [Abstract][Full Text] [Related]
20. The prenatal diagnosis of Pierre-Robin sequence. Hsieh YY; Chang CC; Tsai HD; Yang TC; Lee CC; Tsai CH Prenat Diagn; 1999 Jun; 19(6):567-9. PubMed ID: 10416975 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]