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Journal Abstract Search

154 related items for PubMed ID: 20933621

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  • 4. Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).
    Callier P, Faivre L, Marle N, Thauvin-Robinet C, Mosca AL, Masurel-Paulet A, Borgnon J, Falcon-Eicher S, Danino A, Malka G, Le Merrer M, Huet F, Mugneret F.
    Eur J Med Genet; 2007; 50(6):455-64. PubMed ID: 17720646
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  • 5. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
    Bonnet C, Andrieux J, Béri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D.
    J Med Genet; 2010 Jun; 47(6):377-84. PubMed ID: 20522426
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  • 8. A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation.
    Reddy S, Dolzhanskaya N, Krogh J, Velinov M.
    Eur J Med Genet; 2009 Jun; 52(6):443-5. PubMed ID: 19772933
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  • 9. Brief cytogenetic case report: a 4.5-year-old girl with deletion 4q syndrome--de novo, 46,XX, del(4) (pter leads to q31:).
    Young RS, Palmer CG, Bender HA, Weaver DD, Hodes ME.
    Am J Med Genet; 1982 May; 12(1):103-7. PubMed ID: 7091193
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  • 12. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review.
    Yamanishi T, Nishio J, Miya S, Okamoto N, Takahashi A, Toribe Y, Mukai T, Kobayashi C.
    Cleft Palate Craniofac J; 2008 May; 45(3):325-8. PubMed ID: 18452363
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  • 13. Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.
    Gläser B, Rossier E, Barbi G, Chiaie LD, Blank C, Vogel W, Kehrer-Sawatzki H.
    Am J Med Genet A; 2003 Jan 01; 116A(1):66-70. PubMed ID: 12476454
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  • 14. Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.
    Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.
    Genet Couns; 2005 Jan 01; 16(2):129-38. PubMed ID: 16080292
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  • 15. Confirmation of Kapur-Toriello syndrome in an Italian patient.
    Zelante L, Candela MA, Savoia A, Gasparini P.
    Clin Dysmorphol; 1999 Apr 01; 8(2):151-3. PubMed ID: 10319207
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  • 17. A specific syndrome due to deletion of the distal long arm of chromosome 1.
    Meinecke P, Vögtel D.
    Am J Med Genet; 1987 Oct 01; 28(2):371-6. PubMed ID: 3322005
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  • 20. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.
    El Chehadeh-Djebbar S, Callier P, Masurel-Paulet A, Bensignor C, Méjean N, Payet M, Ragon C, Durand C, Marle N, Mosca-Boidron AL, Huet F, Mugneret F, Faivre L, Thauvin-Robinet C.
    Eur J Med Genet; 2011 Oct 01; 54(3):369-73. PubMed ID: 21397059
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