160 related articles for article (PubMed ID: 17702017)
21. Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance.
Bergadá I; Del Rey G; Lapunzina P; Bergadá C; Fellous M; Copelli S
J Clin Endocrinol Metab; 2005 Jun; 90(6):3186-90. PubMed ID: 15769992
[TBL] [Abstract][Full Text] [Related]
22. Thin ribs, thin tubular bones, abnormal facies and intrauterine growth retardation: a lethal syndrome.
Sharma BK; Kapoor R; Ramji S; Thirupuram S; Suri M
Br J Radiol; 1990 Aug; 63(752):654-6. PubMed ID: 2400886
[No Abstract] [Full Text] [Related]
23. Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21.
Feigin E; Udassin R; Seror D; Szold A; Ben Neriah Z; Glick B
Clin Genet; 1995 Jan; 47(1):53-5. PubMed ID: 7774045
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
Kim YM; Seo GH; Kim GH; Ko JM; Choi JH; Yoo HW
BMC Med Genet; 2018 Mar; 19(1):35. PubMed ID: 29506479
[TBL] [Abstract][Full Text] [Related]
26. Crane-Heise syndrome: a second familial case report with elaboration of phenotype.
Zand DJ; Carpentieri D; Huff D; Medne L; Napierala D; Lee B; Zackai E
Am J Med Genet A; 2003 Apr; 118A(3):223-8. PubMed ID: 12673651
[TBL] [Abstract][Full Text] [Related]
27. [Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].
Jalaguier J; Montoya F; Germain M; Bonnet H
J Genet Hum; 1983 Dec; 31 Suppl 5():385-95. PubMed ID: 6674414
[TBL] [Abstract][Full Text] [Related]
28. Monozygotic twins discordant for the Russell-Silver syndrome.
Samn M; Lewis K; Blumberg B
Am J Med Genet; 1990 Dec; 37(4):543-5. PubMed ID: 2260605
[TBL] [Abstract][Full Text] [Related]
29. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.
Sommer A; Young-Wee T; Frye T
Am J Med Genet; 1983 May; 15(1):71-7. PubMed ID: 6859126
[TBL] [Abstract][Full Text] [Related]
30. New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.
Nivelon A; Nivelon JL; Mabille JP; Maroteaux P; Feldman JP; Douvier S; Aymé S
Clin Dysmorphol; 1992 Oct; 1(4):221-7. PubMed ID: 1342874
[TBL] [Abstract][Full Text] [Related]
31. Syndrome identification case report 90: multiple craniofacial and skeletal defects.
Mastroiacovo P; De Rosa G; Satta MA; Colavita N; Priolo F; Pasargiklian E
J Clin Dysmorphol; 1983; 1(1):13-5. PubMed ID: 6580383
[No Abstract] [Full Text] [Related]
32. Twins and their mildly affected mother with Weaver syndrome.
Dumić M; Vuković J; Cvitkovic M; Medica I
Clin Genet; 1993 Dec; 44(6):338-40. PubMed ID: 8131308
[TBL] [Abstract][Full Text] [Related]
33. Syndrome of camptodactyly, ankyloses, facial anomalies, and pulmonary hypoplasia (Pena-Shokeir syndrome): obstetric and ultrasound aspects.
Shenker L; Reed K; Anderson C; Hauck L; Spark R
Am J Obstet Gynecol; 1985 Jun; 152(3):303-7. PubMed ID: 3890548
[TBL] [Abstract][Full Text] [Related]
34. IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene.
Hutz JE; Krause AS; Achermann JC; Vilain E; Tauber M; Lecointre C; McCabe ER; Hammer GD; Keegan CE
Mol Genet Metab; 2006 May; 88(1):66-70. PubMed ID: 16504561
[TBL] [Abstract][Full Text] [Related]
35. Central nervous system malformations, dense bones and facial dysmorphism: a new autosomal recessive syndrome.
al-Gazali LI; Bakalinova D; Bakir M
Clin Dysmorphol; 1998 Apr; 7(2):123-6. PubMed ID: 9571283
[TBL] [Abstract][Full Text] [Related]
36. A patient with Schinzel-Giedion syndrome and a review of 20 patients.
Okamoto N; Takeuchi M; Kitajima H; Hosokawa S
Jpn J Hum Genet; 1995 Jun; 40(2):189-93. PubMed ID: 7662999
[TBL] [Abstract][Full Text] [Related]
37. [Genetic morphologic fatal syndromes. Neu-Laxova syndrome].
Henkel KE; Pfeiffer RA; Stöss H
Pathologe; 1993 Sep; 14(5):271-3. PubMed ID: 8415438
[No Abstract] [Full Text] [Related]
38. Restrictive dermopathy.
Reed MH; Chudley AE; Kroeker M; Wilmot DM
Pediatr Radiol; 1993; 23(8):617-9. PubMed ID: 8152880
[TBL] [Abstract][Full Text] [Related]
39. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.
Cormier-Daire V; Chauvet ML; Lyonnet S; Briard ML; Munnich A; Le Merrer M
J Med Genet; 2000 Jul; 37(7):520-4. PubMed ID: 10882755
[TBL] [Abstract][Full Text] [Related]
40. Complete trisomy 9. Two additional cases.
Delicado A; Iñiguez L; Lopez Pajares I; Omeñaca F
Ann Genet; 1985; 28(1):63-6. PubMed ID: 3874593
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
