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Serveur d'exploration sur le lymphœdème - Curation (Ncbi)

Index « Keywords » - entrée « Developmental Disabilities (genetics) »
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Developmental Disabilities (etiology) < Developmental Disabilities (genetics) < Developmental Disabilities (pathology)  Facettes :

List of bibliographic references

Number of relevant bibliographic references: 6.
Ident.Authors (with country if any)Title
000081 (1999) D. Mowat [Australie] ; A. Jauch ; L. Robson ; A. SmithDuplication within chromosome 5q characterized by fluorescence in situ hybridization.
003A95 (2010) Byung Joo Lee [Corée du Sud] ; Jeong Hun Kim ; Young Suk YuLissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.
003B33 (2010) Benjamin D. Solomon [États-Unis] ; Eileen Lange [États-Unis] ; Jay Shubrook [États-Unis] ; F. John Service [États-Unis] ; Gail Herman [États-Unis] ; Rajaram J. Karne [États-Unis] ; Phillip Gorden [États-Unis] ; Maximilian Muenke [États-Unis] ; Constantine A. Stratakis [États-Unis]Deletion of 8q24 in an Adult with Mild Dysmorphic Features, Developmental Delay, and Ketotic Hypoglycemia
006241 (2014) Sara M. Sarasua ; Luigi Boccuto ; Julia L. Sharp ; Alka Dwivedi ; Chin-Fu Chen ; Jonathan D. Rollins ; R Curtis Rogers ; Katy Phelan ; Barbara R. DupontClinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
008990 (2017) Aisling M. O'Riordan [Irlande (pays)] ; Niamh Mcgrath [Irlande (pays)] ; Farhana Sharif [Irlande (pays)] ; Nuala P. Murphy [Irlande (pays)] ; Orla Franklin [Irlande (pays)] ; Sally Ann Lynch [Irlande (pays)] ; Michael J. O'Grady [Irlande (pays)]Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.
00B095 (1995) J P FrynsMicrocephaly/lymphedema and terminal deletion of the long arm of chromosome 13.

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