These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 22991300)

  • 1. Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.
    Kariminejad A; Hennekam RC
    Am J Med Genet A; 2012 Nov; 158A(11):2756-62. PubMed ID: 22991300
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3.
    Kariminejad A; Nafissi S; Nilipoor Y; Tavasoli A; Van Veldhoven PP; Bonnard C; Ng YT; Majoie CB; Reversade B; Hennekam RC
    Am J Med Genet A; 2015 Nov; 167A(11):2508-15. PubMed ID: 26192890
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A patient with 9q subtelomeric deletion syndrome with additional findings.
    Tug E; Cavdarli B; Karaoguz MY; Percin FE
    Genet Couns; 2012; 23(4):465-71. PubMed ID: 23431745
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Intellectual disability, unusual facial morphology and hand anomalies in sibs.
    Sousa SB; Venâncio M; Chanudet E; Palmer R; Ramos L; Beales PL; Moore GE; Saraiva JM; Hennekam RC
    Am J Med Genet A; 2013 Oct; 161A(10):2401-6. PubMed ID: 23949889
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.
    Sousa SB; Ramos F; Garcia P; Pais RP; Paiva C; Beales PL; Moore GE; Saraiva JM; Hennekam RC
    Am J Med Genet A; 2014 Jan; 164A(1):10-4. PubMed ID: 24501761
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs.
    Nampoothiri S; Kuthiroly S; Fauth C; Krabichler B; Attie-Bitach T; Hennekam RC
    Am J Med Genet A; 2011 Oct; 155A(10):2465-8. PubMed ID: 21910233
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.
    Kayserili H; Altunoglu U; Yesil G; Rosti RÖ
    Am J Med Genet A; 2016 Jun; 170(6):1391-9. PubMed ID: 27075597
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.
    Norio R; Raitta C; Lindahl E
    Clin Genet; 1984 Jan; 25(1):1-14. PubMed ID: 6705238
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mental retardation, iris coloboma, optic atrophy and distinctive facial appearance in two sibs.
    al-Gazali LI
    Clin Dysmorphol; 1998 Jul; 7(3):201-3. PubMed ID: 9689994
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new autosomal recessive syndrome characterized by ocular hypertelorism, distinctive face, mental retardation, brachydactyly, and genital abnormalities.
    Spiegel R; Horovitz Y; Peters H; Erdogan F; Chervinsky I; Shalev SA
    Am J Med Genet A; 2009 Dec; 149A(12):2655-60. PubMed ID: 19938075
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
    Alanay Y; Ergüner B; Utine E; Haçariz O; Kiper PO; Taşkıran EZ; Perçin F; Uz E; Sağiroğlu MŞ; Yuksel B; Boduroglu K; Akarsu NA
    Am J Med Genet A; 2014 Feb; 164A(2):291-304. PubMed ID: 24194475
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
    Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
    Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
    Kariminejad A; Ajeawung NF; Bozorgmehr B; Dionne-Laporte A; Molidperee S; Najafi K; Gibbs RA; Lee BH; Hennekam RC; Campeau PM
    J Hum Genet; 2017 Apr; 62(4):465-471. PubMed ID: 28003643
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
    Schuurs-Hoeijmakers JH; Landsverk ML; Foulds N; Kukolich MK; Gavrilova RH; Greville-Heygate S; Hanson-Kahn A; Bernstein JA; Glass J; Chitayat D; Burrow TA; Husami A; Collins K; Wusik K; van der Aa N; Kooy F; Brown KT; Gadzicki D; Kini U; Alvarez S; Fernández-Jaén A; McGehee F; Selby K; Tarailo-Graovac M; Van Allen M; van Karnebeek CD; Stavropoulos DJ; Marshall CR; Merico D; Gregor A; Zweier C; Hopkin RJ; Chu YW; Chung BH; de Vries BB; Devriendt K; Hurles ME; Brunner HG;
    Am J Med Genet A; 2016 Mar; 170(3):670-5. PubMed ID: 26842493
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new autosomal recessive syndrome with Zellweger-like manifestations.
    Ahn JK; Lev D; Leshinsky-Silver E; Ginzberg M; Lerman-Sagie T
    Am J Med Genet A; 2003 Jun; 119A(3):352-5. PubMed ID: 12784304
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.
    Young ID; Simpson K
    J Med Genet; 1987 Nov; 24(11):715-6. PubMed ID: 3430551
    [TBL] [Abstract][Full Text] [Related]  

  • 17. An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.
    Dundar M; Demiryilmaz F; Demiryilmaz I; Kumandas S; Erkilic K; Kendirci M; Tuncel M; Ozyazgan I; Tolmie JL
    Clin Genet; 1997 Jan; 51(1):61-4. PubMed ID: 9084938
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.
    Mégarbané A; Le Merrer M; el Kallab K
    Clin Dysmorphol; 1997 Jul; 6(3):239-44. PubMed ID: 9220194
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A diagnostic approach to syndromic retinal dystrophies with intellectual disability.
    Yang XR; Benson MD; MacDonald IM; Innes AM
    Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):538-570. PubMed ID: 32918368
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Fountain's syndrome: mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips.
    Fryns JP
    J Med Genet; 1989 Nov; 26(11):722-4. PubMed ID: 2585470
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.