220 related articles for article (PubMed ID: 19863561)
1. Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome.
Roifman CM; Chitayat D
Clin Genet; 2009 Nov; 76(5):449-57. PubMed ID: 19863561
[TBL] [Abstract][Full Text] [Related]
2. A new autosomal recessive disorder resembling Weaver syndrome.
Teebi AS; Sundareshan TS; Hammouri MY; al-Awadi SA; al-Saleh QA
Am J Med Genet; 1989 Aug; 33(4):479-82. PubMed ID: 2596508
[TBL] [Abstract][Full Text] [Related]
3. A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.
Al-Batniji FS; Mahmoud MA; Van Dijken PJ; Al-Asiri RH; Al-Swaid AF; Al-Marshedy AM
Saudi Med J; 2001 Dec; 22(12):1122-6. PubMed ID: 11802189
[TBL] [Abstract][Full Text] [Related]
4. KBG syndrome.
Brancati F; Sarkozy A; Dallapiccola B
Orphanet J Rare Dis; 2006 Dec; 1():50. PubMed ID: 17163996
[TBL] [Abstract][Full Text] [Related]
5. Larsen syndrome in siblings with consanguineous parents.
Topley JM; Varady E; Lestringant GG
Clin Dysmorphol; 1994 Jul; 3(3):263-5. PubMed ID: 7526939
[TBL] [Abstract][Full Text] [Related]
6. A syndrome of facial dysmorphia, birth defects, myelodysplasia and immunodeficiency in three sibs of consanguineous parents.
Stoll C; Alembik Y; Lutz P
Genet Couns; 1994; 5(2):161-5. PubMed ID: 7917125
[TBL] [Abstract][Full Text] [Related]
7. Genitourinary anomalies of pediatric FG syndrome.
Smith JF; Wayment RO; Cartwright PC; Snow BW; Opitz JM
J Urol; 2007 Aug; 178(2):656-9. PubMed ID: 17574621
[TBL] [Abstract][Full Text] [Related]
8. Kabuki syndrome and trisomy 10p.
Utine GE; Alanay Y; Atkaş D; Boduroğlu K; Alikaşifoğlu M; Tunçbilek E
Genet Couns; 2008; 19(3):291-300. PubMed ID: 18990985
[TBL] [Abstract][Full Text] [Related]
9. The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.
Hershkovitz E; Shalitin S; Levy J; Leiberman E; Weinshtock A; Varsano I; Gorodischer R
Isr J Med Sci; 1995 May; 31(5):293-7. PubMed ID: 7538982
[TBL] [Abstract][Full Text] [Related]
10. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: nosology and genetics of the Coffin-Siris syndrome.
Rabe P; Haverkamp F; Emons D; Rosskamp R; Zerres K; Passarge E
Am J Med Genet; 1991 Dec; 41(3):350-4. PubMed ID: 1724113
[TBL] [Abstract][Full Text] [Related]
11. Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: study of a family.
Moreno LA; Gottrand F; Turck D; Manouvrier-Hanu S; Mazingue F; Morisot C; Le Deist F; Ricour C; Nihoul-Feketé C; Debeugny P
Am J Med Genet; 1990 Sep; 37(1):143-6. PubMed ID: 2240032
[TBL] [Abstract][Full Text] [Related]
12. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Kotzot D; Richter K; Gierth-Fiebig K
Am J Med Genet; 1994 Apr; 50(3):224-7. PubMed ID: 8042664
[TBL] [Abstract][Full Text] [Related]
13. Cardiomyopathy in a child with neutropenia and motor delay.
McCanta AC; Chang AC; Weiner K
Curr Opin Pediatr; 2008 Oct; 20(5):605-7. PubMed ID: 18781126
[TBL] [Abstract][Full Text] [Related]
14. Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers.
Rozendaal L; Del Canho H; Waterham HR; Hennekam RC
Clin Dysmorphol; 2003 Jan; 12(1):9-13. PubMed ID: 12514359
[TBL] [Abstract][Full Text] [Related]
15. Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?
al Gazali LI; al Talabani J; Mosawi A; Lytle W
Clin Dysmorphol; 1994 Jul; 3(3):238-44. PubMed ID: 7981860
[TBL] [Abstract][Full Text] [Related]
16. A de novo 7.6Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay.
Thiel CT; Dörr HG; Trautmann U; Hoyer J; Hofmann K; Kraus C; Ekici AB; Reis A; Rauch A
Eur J Med Genet; 2008; 51(4):362-7. PubMed ID: 18434272
[TBL] [Abstract][Full Text] [Related]
17. Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.
Rossi M; Guerrini R; Dobyns WB; Andria G; Winter RM
Neuropediatrics; 2003 Dec; 34(6):287-92. PubMed ID: 14681753
[TBL] [Abstract][Full Text] [Related]
18. Development and dysmorphism in Joubert syndrome--short case series from India.
Koshy B; Oommen SP; Jasper S; Danda S; Surendrababu NR
J Trop Pediatr; 2010 Jun; 56(3):209-12. PubMed ID: 19755534
[TBL] [Abstract][Full Text] [Related]
19. A case with ICF syndrome lost to rubella pneumonitis.
Reisli I; Yildirim MS; Köksal Y; Avunduk MC; Acar A
Turk J Pediatr; 2005; 47(1):85-8. PubMed ID: 15884637
[TBL] [Abstract][Full Text] [Related]
20. [ICF syndrome. Immunodeficiency, chromosomal centromere instability, facial anomalies. Case report and literature review].
Kieback P; Wendisch H; Lorenz P; Hinkel K
Monatsschr Kinderheilkd; 1992 Feb; 140(2):91-4. PubMed ID: 1557060
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
