Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 3

Results: 7

Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 287, doi. 10.1007/s00439-016-1756-5
By:
- Reza Sailani, M.;
- Jahanbani, Fereshteh;
- Nasiri, Jafar;
- Behnam, Mahdiyeh;
- Salehi, Mansoor;
- Sedghi, Maryam;
- Hoseinzadeh, Majid;
- Takahashi, Shinichi;
- Zia, Amin;
- Gruber, Joshua;
- Lynch, Janet;
- Lam, Daniel;
- Winkelmann, Juliane;
- Amirkiai, Semira;
- Pang, Baoxu;
- Rego, Shannon;
- Mazroui, Safoura;
- Bernstein, Jonathan;
- Snyder, Michael
Publication type:
Article
Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 297, doi. 10.1007/s00439-017-1757-z
By:
- Bramswig, Nuria;
- Caluseriu, O.;
- Lüdecke, H.-J.;
- Bolduc, F.;
- Noel, N.;
- Wieland, T.;
- Surowy, H.;
- Christen, H.-J.;
- Engels, H.;
- Strom, T.;
- Wieczorek, D.
Publication type:
Article
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 307, doi. 10.1007/s00439-017-1758-y
By:
- Parenti, Ilaria;
- Teresa-Rodrigo, María;
- Pozojevic, Jelena;
- Ruiz Gil, Sara;
- Bader, Ingrid;
- Braunholz, Diana;
- Bramswig, Nuria;
- Gervasini, Cristina;
- Larizza, Lidia;
- Pfeiffer, Lutz;
- Ozkinay, Ferda;
- Ramos, Feliciano;
- Reiz, Benedikt;
- Rittinger, Olaf;
- Strom, Tim;
- Watrin, Erwan;
- Wendt, Kerstin;
- Wieczorek, Dagmar;
- Wollnik, Bernd;
- Baquero-Montoya, Carolina
Publication type:
Article
Novel FAM134B mutations and their clinicopathological significance in colorectal cancer.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 321, doi. 10.1007/s00439-017-1760-4
By:
- Islam, Farhadul;
- Gopalan, Vinod;
- Wahab, Riajul;
- Lee, Katherine;
- Haque, Md.;
- Mamoori, Afraa;
- Lu, Cu-tai;
- Smith, Robert;
- Lam, Alfred
Publication type:
Article
Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.
Published in:
2017
By:
- Furlan, Larissa;
- Marson, Fernando;
- Ribeiro, José;
- Bertuzzo, Carmen;
- Salomão Junior, João;
- Souza, Dorotéia
Publication type:
Erratum
Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 339, doi. 10.1007/s00439-017-1762-2
By:
- Hempel, Maja;
- Casar Tena, Teresa;
- Diehl, Thilo;
- Burczyk, Martina;
- Strom, Tim;
- Kubisch, Christian;
- Philipp, Melanie;
- Lessel, Davor
Publication type:
Article
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.
Published in:
Human Genetics, 2017, v. 136, n. 3, p. 275, doi. 10.1007/s00439-016-1754-7
By:
- Leslie, Elizabeth;
- Carlson, Jenna;
- Shaffer, John;
- Butali, Azeez;
- Buxó, Carmen;
- Castilla, Eduardo;
- Christensen, Kaare;
- Deleyiannis, Fred;
- Leigh Field, L.;
- Hecht, Jacqueline;
- Moreno, Lina;
- Orioli, Ieda;
- Padilla, Carmencita;
- Vieira, Alexandre;
- Wehby, George;
- Feingold, Eleanor;
- Weinberg, Seth;
- Murray, Jeffrey;
- Beaty, Terri;
- Marazita, Mary
Publication type:
Article

Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 3

Association of AHSG with alopecia and mental retardation (APMR) syndrome.

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype.

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.

Novel FAM134B mutations and their clinicopathological significance in colorectal cancer.

Erratum to: IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies.

Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate.