Results 111 to 120 of about 60,147,798 (196)

A Complex Case of Langer-Giedion Syndrome, Cornelia de Lange Syndrome Type 4, and Hereditary Multiple Osteochondromas with Mosaic 8q23.1-q24.12 Deletion. [PDF]

Genes (Basel)
Valientes SDA, Wang H.
europepmc   +1 more source

A Rare Case of Coexisting 22q11.2 Deletion Syndrome and Cornelia De Lange Syndrome: A Case Report and Review of the Literature. [PDF]

Cureus
George E, Kontos K.
europepmc   +1 more source

Cornelia de Lange syndrome and cancer: An open question. [PDF]

Am J Med Genet A, 2023
Pallotta MM, Di Nardo M, Hennekam RCM, Kaiser FJ, Parenti I, Pié J, Ramos FJ, Kline AD, Musio A.   +8 more
europepmc   +1 more source

Non-Classic Cornelia de Lange Syndrome Due to <i>BRD4</i> Gene Alterations: A Literature Review. [PDF]

Children (Basel)
Lonardo F, Falco M, Costabile C, Fontana P.   +3 more
europepmc   +1 more source

Overcoming diagnostic delays in Cornelia De Lange syndrome: the power of AI-driven genomics. [PDF]

Ann Med Surg (Lond)
Saleh Dahri S, Asadullah S, Talha M, Shamim L, Imran SB.   +4 more
europepmc   +1 more source

Co-Occurrence of RAD21 and TNFAIP3 Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions. [PDF]

Int J Mol Sci
Orozco BE, Orozco CV, Meléndez E, Mangones MF, Valderrama J, Lobato A, Garavito-Galofre P, Vélez JI, Vidal OM.   +8 more
europepmc   +1 more source

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report. [PDF]

Front Endocrinol (Lausanne)
Al-Rashdi S, Ekstrom L, Collins A, Schulz HL, Dinwiddie A, Samango-Sprouse C, Olaya M, Moser E, Green AJ.   +8 more
europepmc   +1 more source

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals. [PDF]

Congenit Anom (Kyoto)
Kuroda Y, Nagai K, Saito Y, Shimokaze T, Aida N, Satake T, Naruto T, Kurosawa K.   +7 more
europepmc   +1 more source

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome. [PDF]

Sci Rep
Gil-Salvador M, Trujillano L, Lucia-Campos C, Del Rincón J, Pamplona P, Arnedo M, Puisac B, Marcos-Alcalde Í, Gómez-Puertas P, Ramos FJ, Pié J, Latorre-Pellicer A.   +11 more
europepmc   +1 more source

Case Report: A novel intronic variant of <i>NIPBL</i> gene detected in a child with cornelia de lange syndrome. [PDF]

Front Genet
Shao XT, Dai YX, Zhao YF, Chen YH, Ying LJ.   +4 more
europepmc   +1 more source