• Page: C1
• First Published: 21 July 2010

• Pages: fm i-fm v
• First Published: 21 July 2010

• Pages: fm vii-fm viii
• First Published: 21 July 2010

• Page: fm ix
• First Published: 21 July 2010

• Page: fm x
• First Published: 21 July 2010

Hedgehog signaling update^†‡

• Pages: 1875-1914
• First Published: 20 July 2010

New lethal skeletal dysplasia with Dandy–Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies^†

• Pages: 1915-1918
• First Published: 20 July 2010

Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A₂ and prostacyclin^†

• Pages: 1919-1924
• First Published: 20 July 2010

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature^†‡

• Pages: 1925-1932
• First Published: 20 July 2010

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication^†

• Pages: 1933-1941
• First Published: 20 July 2010

Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14^†‡

• Pages: 1942-1950
• First Published: 20 July 2010

Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions^†

• Pages: 1951-1959
• First Published: 20 July 2010

The face of Noonan syndrome: Does phenotype predict genotype^†

• Pages: 1960-1966
• First Published: 20 July 2010

X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart^†

• Pages: 1967-1972
• First Published: 20 July 2010

NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1^†

• Pages: 1973-1978
• First Published: 20 July 2010

Creatine transporter deficiency in two half-brothers^†

• Pages: 1979-1983
• First Published: 20 July 2010

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum^†‡

• Pages: 1984-1989
• First Published: 20 July 2010

Investigation of 90 patients referred for molecular cytogenetic analysis using aCGH uncovers previously unsuspected anomalies of imprinting^†

• Pages: 1990-1993
• First Published: 20 July 2010

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid^†

• Pages: 1994-2001
• First Published: 20 July 2010

Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease^†

• Pages: 2002-2010
• First Published: 20 July 2010

Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate^†

• Pages: 2011-2016
• First Published: 20 July 2010

Familial syndrome resembling Aarskog syndrome^†

• Pages: 2017-2022
• First Published: 20 July 2010

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations^†

• Pages: 2023-2028
• First Published: 20 July 2010

Femoral–facial syndrome: Prenatal diagnosis and clinical features. Report of three cases^†

• Pages: 2029-2033
• First Published: 20 July 2010

Partial hexasomy for the Prader–Willi–Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome^†

• Pages: 2034-2038
• First Published: 20 July 2010

Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis^†

• Pages: 2039-2042
• First Published: 20 July 2010

Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome^†

• Pages: 2043-2047
• First Published: 20 July 2010

Twins with omphalocele in Denmark (1970–1989)^†

• Pages: 2048-2052
• First Published: 20 July 2010

Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance^†

• Pages: 2053-2056
• First Published: 20 July 2010

Giuffrè–Tsukahara syndrome: Evidence for X-linked dominant inheritance and review^†

• Pages: 2057-2060
• First Published: 20 July 2010

TBX2 gene duplication associated with complex heart defect and skeletal malformations^†‡

• Pages: 2061-2066
• First Published: 20 July 2010

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in “paternal age-effect” syndromes^†

• Pages: 2067-2073
• First Published: 20 July 2010

Trisomy 16q21 → qter: Seven-year follow-up of a girl with unusually long survival^†

• Pages: 2074-2078
• First Published: 20 July 2010

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features^†

• Pages: 2079-2084
• First Published: 20 July 2010

Aortic dissection and moyamoya disease in Turner syndrome^†

• Pages: 2085-2089
• First Published: 20 July 2010

Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation^†

• Pages: 2090-2093
• First Published: 20 July 2010

Discordant phenotype and sterol biochemistry in Smith–Lemli–Opitz syndrome^†‡§

• Pages: 2094-2098
• First Published: 20 July 2010

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome^†

• Pages: 2099-2102
• First Published: 20 July 2010

Co-occurrence of Prader–Willi and Sotos syndromes^†

• Pages: 2103-2109
• First Published: 20 July 2010

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males^†

• Pages: 2110-2111
• First Published: 20 July 2010

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism^†‡

• Pages: 2112-2114
• First Published: 20 July 2010

Late manifestations of tricho-rhino-pharangeal syndrome in a patient: Expanded skeletal phenotype in adulthood^†

• Pages: 2115-2119
• First Published: 20 July 2010

Carmi syndrome with congenital heart defects^†‡

• Pages: 2120-2122
• First Published: 20 July 2010

Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome^†

• Pages: 2123-2126
• First Published: 20 July 2010

Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A^†‡

• Pages: 2127-2129
• First Published: 20 July 2010

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation^†

• Pages: 2130-2133
• First Published: 20 July 2010

New report of a familial case of Moebius syndrome presenting skeletal findings^†

• Pages: 2134-2138
• First Published: 20 July 2010

Book review^†

• Page: 2139
• First Published: 20 July 2010

Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity^†

• Pages: 2140-2141
• First Published: 20 July 2010

Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity^†

• Page: 2142
• First Published: 20 July 2010

Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient^†

• Page: 2143
• First Published: 20 July 2010