Detalhe da pesquisa
1.
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans.
Nat Genet
; 5(1): 74-8, 1993 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-8220428
2.
Tetrasomy 12p (Pallister-Killian syndrome): difficulties in prenatal diagnosis.
Arch Gynecol Obstet
; 280(6): 1049-53, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19340439
3.
Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
Clin Genet
; 74(3): 279-83, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18492087
4.
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
Clin Genet
; 81(6): 598-601, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22211794
5.
Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney.
Hum Mutat
; 26(2): 78-83, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15957176
6.
Three different premature stop codons lead to skipping of exon 7 in neurofibromatosis type I patients.
Hum Mutat
; 16(1): 90-1, 2000 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-10874316
7.
Low incidence of UPD in spontaneous abortions beyond the 5th gestational week.
Eur J Hum Genet
; 9(12): 910-6, 2001 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-11840192
8.
Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)-Re-evaluation of chromosome aberration rates in early spontaneous abortions.
Eur J Hum Genet
; 9(7): 539-47, 2001 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-11464246
9.
Anencephaly in one monoamniotic-monochorionic twin and encephalocele in the other.
Am J Med Genet
; 21(4): 631-5, 1985 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-4040703
10.
Skeletal anomalies in trisomy 21 as an example of amplified developmental instability in chromosome disorders: a histological study of the feet of 21 mid-trimester fetuses with trisomy 21.
Am J Med Genet
; 29(1): 155-60, 1988 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-2964198
11.
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi-Shaltout syndrome): clinical and autopsy findings.
Am J Med Genet
; 47(5): 717-22, 1993 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-8267003
12.
Variability in the phenotypic expression of fryns syndrome: A report of two sibships.
Am J Med Genet
; 95(5): 415-24, 2000 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-11146459
13.
Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: further evidence for a contiguous gene syndrome in 17q11.2.
Am J Med Genet
; 87(1): 12-6, 1999 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-10528240
14.
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects.
Am J Med Genet
; 45(4): 511-8, 1993 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-8465860
15.
Trisomy 2q35-q37 due to insertion of 2q material into 17q25: clinical, cytogenetic, and molecular cytogenetic characterization.
Am J Med Genet
; 87(4): 297-301, 1999 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-10588833
16.
VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers.
Am J Med Genet
; 62(2): 169-72, 1996 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-8882398
17.
Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abortion specimen.
Am J Med Genet
; 94(4): 271-80, 2000 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-11038438
18.
Parental origin of the extra haploid chromosome set in triploidies diagnosed prenatally.
Am J Med Genet
; 57(1): 102-6, 1995 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-7645587
19.
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue.
Am J Med Genet
; 91(1): 74-82, 2000 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-10751094
20.
Prenatal diagnosis of the Pallister-Killian mosaic aneuploidy syndrome by CVS.
Am J Med Genet
; 42(5): 747-50, 1992 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1632452