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Suspected Autosomal Recessive Polycystic Kidney Disease but Cerebellar Vermis Hypoplasia, Oligophrenia Ataxia, Coloboma, and Hepatic Fibrosis (COACH) Syndrome in Retrospect, A Delayed Diagnosis Aided by Genotyping and Reverse Phenotyping: A Case Report and A Review of the Literature
Published in:
Nephron, 2024, v. 148, n. 4, p. 264, doi. 10.1159/000527991
By:
- Sambharia, Meenakshi;
- Freese, Margaret E.;
- Donato, Francisco;
- Bathla, Girish;
- Abukhiran, Ibrahim M.M.;
- Dantuma, Maisie I.;
- Mansilla, M. Adela;
- Thomas, Christie P.
Publication type:
Article
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Published in:
Nephrology Dialysis Transplantation, 2021, v. 36, n. 2, p. 295, doi. 10.1093/ndt/gfz173
By:
- Mansilla, M Adela;
- Sompallae, Ramakrishna R;
- Nishimura, Carla J;
- Kwitek, Anne E;
- Kimble, Mycah J;
- Freese, Margaret E;
- Campbell, Colleen A;
- Smith, Richard J;
- Thomas, Christie P
Publication type:
Article
Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.
Published in:
BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6421039
By:
- Joshi, Charuta;
- Kolbe, Diana L.;
- Mansilla, M. Adela;
- Mason, Sara O.;
- Smith, Richard J. H.;
- Campbell, Colleen A.
Publication type:
Article
Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX 7 and VAX 1 in the Etiology of Nonsyndromic CL(P).
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 965, doi. 10.1002/ajmg.a.35749
By:
- Butali, Azeez;
- Suzuki, Satoshi;
- Cooper, Margaret E.;
- Mansilla, Adela M.;
- Cuenco, Karen;
- Leslie, Elizabeth J.;
- Suzuki, Yasushi;
- Niimi, Teruyuki;
- Yamamoto, Masahiko;
- Ayanga, Gongorjav;
- Erkhembaatar, Tudevdorj;
- Furukawa, Hiroo;
- Fujiwawa, Kumiko;
- Imura, Hideto;
- Petrin, Aline L.;
- Natsume, Nagato;
- Beaty, Terri H.;
- Marazita, Mary L.;
- Murray, Jeffery C.
Publication type:
Article
Prevalence of kidney health genetic variants in adults with sickle cell nephropathy.
Published in:
British Journal of Haematology, 2024, v. 205, n. 1, p. 316, doi. 10.1111/bjh.19525
By:
- Ruiz, Maria Armila;
- Zhang, Xu;
- Mansilla, M. Adela;
- Zahr, Rima S.;
- Thomas, Christie P.;
- Smith, Richard J.;
- Gordeuk, Victor R.;
- Saraf, Santosh L.
Publication type:
Article
CRISPLD2 Variants Including a C471T Silent Mutation May Contribute to Nonsyndromic Cleft Lip With or Without Cleft Palate.
Published in:
Cleft Palate Craniofacial Journal, 2011, v. 48, n. 4, p. 363, doi. 10.1597/09-227
By:
- Letra, Ariadne;
- Menezes, Renato;
- Cooper, Margaret E.;
- Fonseca, Renata F.;
- Tropp, Stephen;
- Govil, Manika;
- Granjeiro, Jose M.;
- Imoehl, Sandra R.;
- Mansilla, M. Adela;
- Murray, Jeffrey C.;
- Castilla, Eduardo E.;
- Orioli, Iêda M.;
- Czeizel, Andrew E.;
- Ma, Lian;
- Chiquet, Brett T.;
- Hecht, Jacqueline T.;
- Vieira, Alexandre R.;
- Marazita, Mary L.
Publication type:
Article
A Mutation in Mouse <i>Pak1ip1</i> Causes Orofacial Clefting while Human <i>PAK1IP1</i> Maps to 6p24 Translocation Breaking Points Associated with Orofacial Clefting.
Published in:
PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0069333
By:
- Ross, Adam P.;
- Mansilla, M. Adela;
- Choe, Youngshik;
- Helminski, Simon;
- Sturm, Richard;
- Maute, Roy L.;
- May, Scott R.;
- Hozyasz, Kamil K.;
- Wójcicki, Piotr;
- Mostowska, Adrianna;
- Davidson, Beth;
- Adamopoulos, Iannis E.;
- Pleasure, Samuel J.;
- Murray, Jeffrey C.;
- Zarbalis, Konstantinos S.
Publication type:
Article
Identification of Isthmin 1 as a Novel Clefting and Craniofacial Patterning Gene in Humans.
Published in:
Genetics, 2018, v. 208, n. 1, p. 283, doi. 10.1534/genetics.117.300535
By:
- Lansdon, Lisa A.;
- Darbro, Benjamin W.;
- Petrin, Aline L.;
- Hulstrand, Alissa M.;
- Standley, Jennifer M.;
- Brouillette, Rachel B.;
- Long, Abby;
- Mansilla, M. Adela;
- Cornell, Robert A.;
- Murray, Jeffrey C.;
- Houston, Douglas W.;
- Manak, J. Robert
Publication type:
Article
Familial hyperkalemic hypertension: hyperkalemia not hypertension defines dominant KLHL3 disease and may permit earlier recognition and tailored therapy.
Published in:
Journal of Nephrology (JNonline), 2022, v. 35, n. 6, p. 1737, doi. 10.1007/s40620-021-01217-5
By:
- Sambharia, Meenakshi;
- Gattineni, Jyothsna;
- Noureddine, Lama;
- Mansilla, M. Adela;
- Thomas, Christie P.
Publication type:
Article

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