1 |
Delayed Stenosis in the Intracranial Vessels following Endovascular Treatment for Acute Stroke.
38
|
Enomoto Y...Iwama T
|
26428879
|
2015 |
2 |
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.
38
|
Kloosterman WP...Hochstenbach R
|
25606056
|
2014 |
3 |
Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy.
38
|
Passariello A...Tonini GP
|
24035971
|
2013 |
4 |
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
38
|
Castori M...Grammatico P
|
23994350
|
2013 |
5 |
[Emergency carotid artery stenting within 24 hours after intravenous thrombolysis for acute ischemic stroke: a case report].
38
|
Inoue A...Ohnishi T
|
23824351
|
2013 |
6 |
Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.
38
|
Vodopiutz J...Janecke AR
|
23069192
|
2013 |
7 |
Structural chromosomal abnormalities in patients with mental retardation and/or multiple congenital anomalies: a new series of 24 patients.
38
|
Tos T...Tukun A
|
22876589
|
2012 |
8 |
Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.
38
|
Jehee FS...Passos-Bueno MR
|
21457803
|
2011 |
9 |
Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.
38
|
Megarbane A...Villard L
|
21465653
|
2011 |
10 |
A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemia.
38
|
Pallister PD...Opitz JM
|
21595000
|
2011 |
11 |
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
38
|
Hayashi S...Inazawa J
|
20981036
|
2011 |
12 |
A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.
38
|
Gimelli S...Bena F
|
20933621
|
2011 |
13 |
Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance.
38
|
Castori M...Grammatico P
|
20949527
|
2010 |
14 |
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
38
|
Jaillard S...Dubourg C
|
19878743
|
2010 |
15 |
A new association of multiple congenital anomalies/mental retardation syndrome with bradycardia-tachycardia syndrome: a case report.
38
|
Murugesan C...Muralidhar K
|
20062738
|
2009 |
16 |
KBG syndrome: review of the literature and findings of 5 affected patients.
38
|
Kumar H...Cameron A
|
19716495
|
2009 |
17 |
Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child.
38
|
Lamonica DA...Richieri-Costa A
|
19396836
|
2009 |
18 |
Jacobsen syndrome.
38
|
Mattina T...Grossfeld P
|
19267933
|
2009 |
19 |
A missense mutation in CASK causes FG syndrome in an Italian family.
38
|
Piluso G...Nigro V
|
19200522
|
2009 |
20 |
The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics.
38
|
Peeters K...Fryns JP
|
18564496
|
2008 |
21 |
Subtelomeric imbalances in phenotypically normal individuals.
38
|
Balikova I...Vermeesch JR
|
17492636
|
2007 |
22 |
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
38
|
Garavelli L...Neri G
|
18058629
|
2007 |
23 |
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?
38
|
Wieczorek D...Gillessen-Kaesbach G
|
17497718
|
2007 |
24 |
Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.
38
|
Guion-Almeida ML...Richieri-Costa A
|
19668508
|
2007 |
25 |
[Case of hemodynamic brain infarction diagnosed by transcranial Doppler].
38
|
Terasawa Y...Kimura K
|
17633105
|
2007 |
26 |
The FG syndrome: report of a large Italian series.
38
|
Battaglia A...Carey JC
|
16691600
|
2006 |
27 |
A de novo subterminal trisomy 10p and monosomy 18q in a girl with MCA/MR: case report and review.
38
|
Courtens W...Wauters J
|
16488200
|
2006 |
28 |
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
38
|
Menten B...Vermeesch JR
|
16490798
|
2006 |
29 |
Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.
38
|
Chaabouni M...Romana SP
|
16762827
|
2006 |
30 |
Chromosomal abnormalities in 457 Turkish patients with MCA/MR.
38
|
Celep F...Karaguzel A
|
16848112
|
2006 |
31 |
Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.
38
|
de Ravel TJ...Vermeesch JR
|
17124404
|
2006 |
32 |
Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis.
38
|
Battaglia A...Carey JC
|
16353244
|
2006 |
33 |
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: report of a second patient with Nguyen syndrome.
38
|
Nakane T...Nakazawa S
|
16088930
|
2005 |
34 |
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.
38
|
Sanlaville D...Turleau C
|
15770228
|
2005 |
35 |
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.
38
|
Rossi M...Parenti G
|
15580635
|
2005 |
36 |
Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndrome.
38
|
Gurrieri F...Neri G
|
15057987
|
2004 |
37 |
Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.
38
|
Giuliano F...Philip N
|
15039980
|
2004 |
38 |
Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.
38
|
Nowaczyk MJ...Waye JS
|
14981719
|
2004 |
39 |
[MCA/MR anomaly--case report].
38
|
Mrugacz M...Urban B
|
15636261
|
2004 |
40 |
MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia.
38
|
Nguyen K...Philip N
|
12910487
|
2003 |
41 |
Medial telangiectatic sacral nevi and MCA/MR syndromes.
38
|
Schepis C...Sindoni A
|
12869167
|
2003 |
42 |
Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27).
38
|
Vermeesch JR...Fryns JP
|
12833421
|
2003 |
43 |
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.
38
|
Horn D...Bartsch O
|
12599186
|
2003 |
44 |
Kabuki make-up syndrome: a review.
38
|
Matsumoto N...Niikawa N
|
12561059
|
2003 |
45 |
Two new cases of analphoid marker chromosomes.
38
|
Spiegel M...Bartsch O
|
12503108
|
2003 |
46 |
Recombinant 4 syndrome due to an unbalanced pericentric inversion of chromosome 4.
38
|
Battaglia A...Carey JC
|
12239731
|
2002 |
47 |
A second patient with MCA/MR syndrome with multiple circumferential skin creases.
38
|
Leonard NJ
|
12239728
|
2002 |
48 |
Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
38
|
Rossi M...Andria G
|
12116209
|
2002 |
49 |
Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1).
38
|
Czako M...Kosztolanyi G
|
11891691
|
2002 |
50 |
Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
38
|
Wieczorek D...Gillessen-Kaesbach G
|
11891687
|
2002 |