• Page: C1
• First Published: 20 May 2011

• Pages: fm i-fm v
• First Published: 20 May 2011

• Pages: fm vii-fm viii
• First Published: 20 May 2011

• Page: fm ix
• First Published: 20 May 2011

• Page: fm x
• First Published: 20 May 2011

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype^†

• Pages: 1217-1224
• First Published: 05 May 2011

Anatomic and etiological classification of congenital limb deficiencies^†

• Pages: 1225-1235
• First Published: 09 May 2011

Is autosomal recessive Silver–Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?^†‡

• Pages: 1236-1245
• First Published: 05 May 2011

Balanced information about Down syndrome: What is essential?^†

• Pages: 1246-1257
• First Published: 05 May 2011

Understanding physicians' attitudes toward people with Down syndrome^†‡

• Pages: 1258-1263
• First Published: 13 May 2011

Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers^†‡

• Pages: 1264-1271
• First Published: 05 May 2011

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity^†‡

• Pages: 1272-1280
• First Published: 12 May 2011

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening^†

• Pages: 1281-1284
• First Published: 12 May 2011

A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family^†

• Pages: 1285-1289
• First Published: 12 May 2011

Age related change in social behavior in children with Angelman syndrome^†

• Pages: 1290-1297
• First Published: 12 May 2011

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment^†

• Pages: 1298-1313
• First Published: 28 April 2011

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome^†

• Pages: 1314-1321
• First Published: 13 May 2011

Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype^†

• Pages: 1322-1328
• First Published: 26 April 2011

High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome)^†‡

• Pages: 1329-1335
• First Published: 12 May 2011

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25^†

• Pages: 1336-1351
• First Published: 05 May 2011

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR^†‡

• Pages: 1352-1359
• First Published: 05 May 2011

Lethal presentation of neurofibromatosis and Noonan syndrome^†

• Pages: 1360-1366
• First Published: 12 May 2011

Craniorachischisis and omphalocele in a stillborn cynomolgus monkey (Macaca fascicularis)^†

• Pages: 1367-1373
• First Published: 12 May 2011

Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age^†

• Pages: 1374-1378
• First Published: 12 May 2011

Additional features of unique Primrose syndrome phenotype^†

• Pages: 1379-1383
• First Published: 12 May 2011

Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features^†

• Pages: 1384-1389
• First Published: 12 May 2011

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH^†

• Pages: 1390-1392
• First Published: 12 May 2011

Ritscher–Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement^†

• Pages: 1393-1397
• First Published: 12 May 2011

The smallest teeth in the world are caused by mutations in the PCNT gene^†

• Pages: 1398-1403
• First Published: 12 May 2011

Extending the phenotype of lethal skeletal dysplasia type al Gazali^†‡

• Pages: 1404-1408
• First Published: 12 May 2011

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: An association with Hunter–McAlpine syndrome?^†

• Pages: 1409-1413
• First Published: 12 May 2011

Type 1 collagenopathy presenting with a Russell–Silver phenotype^†

• Pages: 1414-1418
• First Published: 12 May 2011

Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex^†

• Pages: 1419-1424
• First Published: 12 May 2011

A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability^†‡

• Pages: 1425-1431
• First Published: 13 May 2011

Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate^†

• Pages: 1432-1436
• First Published: 12 May 2011

Interstitial deletion 5q14.3q21.3 with MEF2C haploinsufficiency and mild phenotype: When more is less^†

• Pages: 1437-1441
• First Published: 12 May 2011

TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly^†

• Pages: 1442-1447
• First Published: 12 May 2011

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans^†‡

• Pages: 1448-1452
• First Published: 12 May 2011

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion^†‡

• Pages: 1453-1457
• First Published: 13 May 2011

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: Report of a new case and further delineation of a new syndrome^†

• Pages: 1458-1460
• First Published: 05 May 2011

Significant liver disease in a patient with Y116H mutation in the MVK gene^†

• Pages: 1461-1464
• First Published: 05 May 2011

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q^†

• Pages: 1465-1468
• First Published: 12 May 2011

Association of ABCA4 and MAFB with non-syndromic cleft lip with or without cleft palate^†

• Pages: 1469-1471
• First Published: 12 May 2011

Mutation and expression analyses of the ribosomal protein gene RPL10 in an extended German sample of patients with autism spectrum disorder^†‡

• Pages: 1472-1475
• First Published: 12 May 2011

Deletion 2q31.2-q31.3 in a 4-year-old girl with microcephaly and severe mental retardation^†

• Pages: 1476-1482
• First Published: 12 May 2011

Obesity in pycnodysostosis due to UPD1: Possible effect of an imprinted gene on chromosome 1^†

• Pages: 1483-1486
• First Published: 12 May 2011

A new case of maternal lupus-associated chondrodysplasia punctata with extensive spinal anomalies^†

• Pages: 1487-1491
• First Published: 12 May 2011

Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis^†

• Pages: 1492-1495
• First Published: 12 May 2011

A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus^†

• Pages: 1496-1499
• First Published: 12 May 2011

A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis^†

• Pages: 1500-1502
• First Published: 12 May 2011

Book review^†

• Page: 1503
• First Published: 27 April 2011

Cancer predisposition in children with Kabuki syndrome^†

• Page: 1504
• First Published: 05 May 2011

Corrigendum to “Versteegh FGA, Buma SA, Costin G, Jong WC de, Hennekam RCM, EvC Working Party: 2007. Growth hormone analysis and treatment in Ellis–van Creveld syndrome. Am J Med Genet Part A 143A:2113–2121”^†

• Page: 1505
• First Published: 20 May 2011