Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): Report of six cases of a new syndrome/association^†

• Pages: 2583-2588
• First Published: 16 September 2008

Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway^†

• Pages: 2589-2597
• First Published: 16 September 2008

Polymorphisms in the CBS gene and homocysteine, folate and vitamin B₁₂ levels: Association with polymorphisms in the MTHFR and MTRR genes in Brazilian children^†

• Pages: 2598-2602
• First Published: 15 September 2008

Mutation analysis of B3GALTL in Peters Plus syndrome^†

• Pages: 2603-2610
• First Published: 16 September 2008

Genetic counseling in Robertsonian translocations der(13;14): Frequencies of reproductive outcomes and infertility in 101 pedigrees^†‡

• Pages: 2611-2616
• First Published: 16 September 2008

Construction of a high resolution linkage disequilibrium map to evaluate common genetic variation in TP53 and neural tube defect risk in an Irish population^†‡

• Pages: 2617-2625
• First Published: 16 September 2008

Sirenomelia and cyclopia cluster in Cali, Colombia^†

• Pages: 2626-2636
• First Published: 16 September 2008

High prevalence of orofacial clefts in Shanxi Province in northern China, 2003–2004^†

• Pages: 2637-2643
• First Published: 16 September 2008

Evidence that SIZN1 is a candidate X-linked mental retardation gene^†

• Pages: 2644-2650
• First Published: 16 September 2008

Two cases of mosaicism for complex chromosome rearrangements (CCRM) associated with secondary infertility^†

• Pages: 2651-2656
• First Published: 16 September 2008

Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene^†‡

• Pages: 2657-2662
• First Published: 24 September 2008

Pure duplication 1q41-qter: Further delineation of trisomy 1q syndromes^†

• Pages: 2663-2667
• First Published: 16 September 2008

Familial deletion 11q14.3–q22.1 without apparent phenotypic consequences: A haplosufficient 8.5 Mb region^†

• Pages: 2668-2672
• First Published: 16 September 2008

Congenital vascular malformations: A series of five prenatally diagnosed cases^†

• Pages: 2673-2680
• First Published: 16 September 2008

Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings^†

• Pages: 2681-2687
• First Published: 16 September 2008

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder^†

• Pages: 2688-2690
• First Published: 24 September 2008

Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype^†

• Pages: 2691-2697
• First Published: 16 September 2008

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl^†

• Pages: 2698-2700
• First Published: 15 September 2008

Maternal exposure to statins and risk for birth defects: A case-series approach^†‡§¶

• Pages: 2701-2705
• First Published: 15 September 2008

Linkage disequilibrium between IRF6 variants and nonsyndromic cleft lip/palate in the Chilean population^†

• Pages: 2706-2708
• First Published: 16 September 2008

Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population^†

• Pages: 2709-2712
• First Published: 16 September 2008

• Page: 2713
• First Published: 24 September 2008

• Page: 2714
• First Published: 24 September 2008