Extra chromosome in trisomy 21 silence d in stem cells: Findings raise potential for new insights into Down syndrome and other chromosomal disorders
Short falls in treatment, management for pku raise concerns: Lack of medical care, coverage for affected adults bolsters call for long-term management of chronic conditions identified in newborn screening programs
Encomium: Giovanni Neri—Polyhedral and down-to-earth mentor
The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome
Giovanni Neri
My memories of Dr. Giovanni Neri
My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC)
Editor's forward to special articles: Elements of morphology
Historical perspective on developmental concepts and terminology
Elements of morphology: General terms for congenital anomalies
MED12 related disorders
Malformations among the X-linked intellectual disability syndromes
Perspectives on RAGE signaling and its role in cardiovascular disease
GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)
Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients
The growing complexity of the intestinal polyposis syndromes
Developmental disease and cancer: Biological and clinical overlaps
Epigenetics, fragile X syndrome and transcriptional therapy
Fragile X syndrome: From protein function to therapy
Annals of morphology. Atavisms: Phylogenetic lazarus?
Solving the puzzle of spinal muscular atrophy: What are the missing pieces?
Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example
The hutterite variant of treacher collins syndrome: A 28-year-old story solved
Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update
Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?
Biallelic SEMA3A defects cause a novel type of syndromic short stature
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co-morbidity model with additional copy number variations in a large family
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci
PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the “Sansevero Chapel”