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Items: 1 to 50 of 247

1.

SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.

Del Pino M, Aza-Carmona M, Medino-Martín D, Gomez A, Heath KE, Fano V, Obregon MG.

J Pediatr Genet. 2019 Sep;8(3):123-132. doi: 10.1055/s-0039-1691788. Epub 2019 May 28.

PMID:
31406617
2.

Proteomic analysis reveals a role for PAX8 in peritoneal colonization of high grade serous ovarian cancer that can be targeted with micelle encapsulated thiostrepton.

Hardy LR, Pergande MR, Esparza K, Heath KN, Önyüksel H, Cologna SM, Burdette JE.

Oncogene. 2019 Aug;38(32):6003-6016. doi: 10.1038/s41388-019-0842-2. Epub 2019 Jul 11.

PMID:
31296958
3.

Effect of gamma aminobutyric acid (GABA) or GABA with glutamic acid decarboxylase (GAD) on the progression of type 1 diabetes mellitus in children: Trial design and methodology.

Choat HM, Martin A, Mick GJ, Heath KE, Tse HM, McGwin G Jr, McCormick KL.

Contemp Clin Trials. 2019 Jul;82:93-100. doi: 10.1016/j.cct.2019.06.007. Epub 2019 Jun 20.

PMID:
31229619
4.

Most new HIV infections, vertical transmissions and AIDS-related deaths occur in lower-prevalence countries.

Kempton J, Hill A, Levi JA, Heath K, Pozniak A.

J Virus Erad. 2019 Apr 1;5(2):92-101.

5.

Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.

Rodríguez-Contreras FJ, Marbán-Calzón M, Vallespín E, Del Pozo Á, Solís-López M, Lobato-Vidal N, Fernández-Elvira M, Del Valle Rex-Romero M, Heath KE, González-Casado I, Campos-Barros Á.

Am J Med Genet A. 2019 Aug;179(8):1591-1597. doi: 10.1002/ajmg.a.61201. Epub 2019 May 23.

PMID:
31120642
6.

How common are suicides using nitrous oxide?

Byard RW, Heath K.

Med Sci Law. 2019 Jul;59(3):160-163. doi: 10.1177/0025802419852184. Epub 2019 May 19. No abstract available.

PMID:
31106676
7.

Tuberculosis-related stigma contributing to a 'hidden' disease at autopsy.

Heath K, Byard RW.

Med Sci Law. 2019 Jul;59(3):135-138. doi: 10.1177/0025802419849350. Epub 2019 May 12. No abstract available.

PMID:
31081464
8.

Nitrogen inhalation suicide pacts.

Byard RW, Winskog C, Heath K.

Med Sci Law. 2019 Jan;59(1):57-60. doi: 10.1177/0025802419828914. Epub 2019 Feb 13.

PMID:
30760102
9.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Dec 6;103(6):1054-1055. doi: 10.1016/j.ajhg.2018.11.009. No abstract available.

10.

Correction: Disparities in the Burden of HIV/AIDS in Canada.

Hogg RS, Heath K, Lima VD, Nosyk B, Kanters S, Wood E, Kerr T, Montaner JSG.

PLoS One. 2018 Dec 6;13(12):e0209045. doi: 10.1371/journal.pone.0209045. eCollection 2018.

11.

Wood decomposition in aquatic and terrestrial ecosystems in the tropics: contrasting biotic and abiotic processes.

Jones JM, Heath KD, Ferrer A, Brown SP, Canam T, Dalling JW.

FEMS Microbiol Ecol. 2019 Jan 1;95(1). doi: 10.1093/femsec/fiy223.

PMID:
30445583
12.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18. Erratum in: Am J Hum Genet. 2018 Dec 6;103(6):1054-1055.

13.

Cost-effectiveness analysis of treatment timing considering the future entry of lower-cost generics for hepatitis C.

Heath K.

Clinicoecon Outcomes Res. 2018 Sep 20;10:539-550. doi: 10.2147/CEOR.S171248. eCollection 2018.

14.

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene.

Skuplik I, Benito-Sanz S, Rosin JM, Bobick BE, Heath KE, Cobb J.

Sci Rep. 2018 Sep 24;8(1):14292. doi: 10.1038/s41598-018-32565-1.

15.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.012. No abstract available.

16.

Lethal small intestinal herniation through a congenital mesenteric defect.

Heath K, Byard RW.

Forensic Sci Med Pathol. 2019 Mar;15(1):140-142. doi: 10.1007/s12024-018-0009-4. Epub 2018 Aug 1.

PMID:
30069660
17.

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.

Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH; GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP.

Am J Hum Genet. 2018 Aug 2;103(2):221-231. doi: 10.1016/j.ajhg.2018.07.001. Epub 2018 Jul 26. Erratum in: Am J Hum Genet. 2018 Sep 6;103(3):456.

18.

Lethal carbon monoxide toxicity in a concrete shower unit.

Heath K, Byard RW.

Forensic Sci Med Pathol. 2019 Mar;15(1):133-135. doi: 10.1007/s12024-018-9990-x. Epub 2018 May 23.

PMID:
29796749
19.

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, Reis A, Thiel CT.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

20.
21.

Occult cardiac lymphoma and sudden death.

Olds K, Heath K, Miliauskas J, Byard RW.

Forensic Sci Med Pathol. 2018 Dec;14(4):551-554. doi: 10.1007/s12024-018-9970-1. Epub 2018 Mar 22.

PMID:
29564725
22.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE.

Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24.

23.

xenoGI: reconstructing the history of genomic island insertions in clades of closely related bacteria.

Bush EC, Clark AE, DeRanek CA, Eng A, Forman J, Heath K, Lee AB, Stoebel DM, Wang Z, Wilber M, Wu H.

BMC Bioinformatics. 2018 Feb 5;19(1):32. doi: 10.1186/s12859-018-2038-0.

24.

Development of the Digital Arthritis Index, a Novel Metric to Measure Disease Parameters in a Rat Model of Rheumatoid Arthritis.

Lim MA, Louie B, Ford D, Heath K, Cha P, Betts-Lacroix J, Lum PY, Robertson TL, Schaevitz L.

Front Pharmacol. 2017 Nov 14;8:818. doi: 10.3389/fphar.2017.00818. eCollection 2017.

25.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL.

J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026.

PMID:
29155992
26.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S, Santos-Simarro F, Arias P, Carnicer H, Giannivelli S, Medina J, Pérez-Piaya R, Solís J, Rodríguez M, Villagrá A, Rodríguez L, Nevado J, Martínez-Glez V, Heath KE, Lapunzina P.

Rev Esp Cardiol (Engl Ed). 2018 Jul;71(7):545-552. doi: 10.1016/j.rec.2017.10.013. Epub 2017 Nov 14. English, Spanish.

PMID:
29146485
27.

Trees harness the power of microbes to survive climate change.

Lau JA, Lennon JT, Heath KD.

Proc Natl Acad Sci U S A. 2017 Oct 17;114(42):11009-11011. doi: 10.1073/pnas.1715417114. Epub 2017 Oct 9. No abstract available.

28.

Multiple SLC26A2 mutations occurring in a three-generational family.

Barreda-Bonis AC, Barraza-García J, Parrón M, Pastor I, Heath KE, González-Casado I.

Eur J Med Genet. 2018 Jan;61(1):24-28. doi: 10.1016/j.ejmg.2017.10.007. Epub 2017 Oct 10.

PMID:
29024831
29.

Metal Railing Fences and Accidental Death.

Heath KJ, Cala AD, Byard RW.

J Forensic Sci. 2018 May;63(3):972-975. doi: 10.1111/1556-4029.13654. Epub 2017 Sep 20.

PMID:
28940542
30.

Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.

Rodríguez F, Vallejos C, Giraudo F, Unanue N, Hernández MI, Godoy P, Célis S, Martín-Arenas R, Palomares-Bralo M, Heath KE, López MT, Cassorla F.

Andrology. 2017 Sep;5(5):923-930. doi: 10.1111/andr.12390. Epub 2017 Jul 10.

31.

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE.

Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25.

PMID:
28730625
32.

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-López C, Alonso-Bernáldez M, Barraza-García J, Rodriguez-Zabala M, Lerario AM, Benito-Sanz S, Aza-Carmona M, Campos-Barros A, Jorge AAL, Heath KE.

Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28.

PMID:
28661490
33.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F.

Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. No abstract available.

PMID:
28640240
34.

Geographically structured genetic variation in the Medicago lupulina-Ensifer mutualism.

Harrison TL, Wood CW, Heath KD, Stinchcombe JR.

Evolution. 2017 Jul;71(7):1787-1801. doi: 10.1111/evo.13268. Epub 2017 Jun 8.

PMID:
28489251
35.

Moisturisers in scar management following burn: A survey report.

Klotz T, Kurmis R, Munn Z, Heath K, Greenwood J.

Burns. 2017 Aug;43(5):965-972. doi: 10.1016/j.burns.2017.01.021. Epub 2017 Apr 14.

PMID:
28413108
36.

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature.

Rivera-Pedroza CI, Barraza-García J, Paumard-Hernández B, Nevado J, Orbea-Gallardo C, Sánchez Del Pozo J, Heath KE.

Mol Syndromol. 2017 Jan;8(1):30-35. doi: 10.1159/000452609. Epub 2016 Nov 17.

37.

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Tenorio J, Álvarez I, Riancho-Zarrabeitia L, Martos-Moreno GÁ, Mandrile G, de la Flor Crespo M, Sukchev M, Sherif M, Kramer I, Darnaude-Ortiz MT, Arias P, Gordo G, Dapía I, Martinez-Villanueva J, Gómez R, Iturzaeta JM, Otaify G, García-Unzueta M, Rubinacci A, Riancho JA, Aglan M, Temtamy S, Hamid MA, Argente J, Ruiz-Pérez VL, Heath KE, Lapunzina P.

Am J Med Genet A. 2017 Mar;173(3):601-610. doi: 10.1002/ajmg.a.37991. Epub 2017 Jan 27.

PMID:
28127875
38.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.

Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan.

39.

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE.

Clin Genet. 2017 Jul;92(1):91-98. doi: 10.1111/cge.12964. Epub 2017 Feb 22.

40.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Vasques GA, Hisado-Oliva A, Funari MF, Lerario AM, Quedas EP, Solberg P, Heath KE, Jorge AA.

J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):111-116. doi: 10.1515/jpem-2016-0280.

PMID:
27941173
41.

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A.

J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313.

42.

An analysis of possible off target effects following CAS9/CRISPR targeted deletions of neuropeptide gene enhancers from the mouse genome.

Hay EA, Khalaf AR, Marini P, Brown A, Heath K, Sheppard D, MacKenzie A.

Neuropeptides. 2017 Aug;64:101-107. doi: 10.1016/j.npep.2016.11.003. Epub 2016 Nov 4.

43.

Nitrogen addition does not influence pre-infection partner choice in the legume-rhizobium symbiosis.

Grillo MA, Stinchcombe JR, Heath KD.

Am J Bot. 2016 Oct;103(10):1763-1770. Epub 2016 Sep 26.

44.

Should Ultrasound Be Used Routinely to Guide Botulinum Toxin Injections for Spasticity?

McGuire J, Heath K, O'Dell MW.

PM R. 2016 Oct;8(10):1004-1010. doi: 10.1016/j.pmrj.2016.09.006. No abstract available.

PMID:
27769363
45.

Reply to Delanghe, Speeckaert, and De Buyzere: "The evolutionary adaptation of hemochromatosis associated mutations during the Neolithic".

Heath KM, Axton JH, McCullough JM, Harris N.

Am J Phys Anthropol. 2016 Nov;161(3):532-533. doi: 10.1002/ajpa.23047. Epub 2016 Jul 9. No abstract available.

PMID:
27393296
46.

Intrapopulation genomics in a model mutualist: Population structure and candidate symbiosis genes under selection in Medicago truncatula.

Grillo MA, De Mita S, Burke PV, Solórzano-Lowell KL, Heath KD.

Evolution. 2016 Dec;70(12):2704-2717. doi: 10.1111/evo.13095. Epub 2016 Nov 7.

PMID:
27757965
47.

Letter to the editor: Reply to Kasvosve (2016).

Heath KM, Axton JH, McCullough JM, Harris N.

Am J Phys Anthropol. 2017 Feb;162(2):395-396. doi: 10.1002/ajpa.23107. Epub 2016 Oct 3. No abstract available.

PMID:
27696374
48.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.

Benito-Sanz S, Belinchon-Martínez A, Aza-Carmona M, de la Torre C, Huber C, González-Casado I, Ross JL, Thomas NS, Zinn AR, Cormier-Daire V, Heath KE.

J Hum Genet. 2017 Feb;62(2):229-234. doi: 10.1038/jhg.2016.113. Epub 2016 Sep 8. Review.

PMID:
27604558
49.

Rhizobia: tractable models for bacterial evolutionary ecology.

Heath KD, Grillo MA.

Environ Microbiol. 2016 Dec;18(12):4307-4311. doi: 10.1111/1462-2920.13492. Epub 2016 Aug 25. No abstract available.

PMID:
27507122
50.

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

Barraza-García J, Rivera-Pedroza CI, Belinchón A, Fernández-Camblor C, Valenciano-Fuente B, Lapunzina P, Heath KE.

Eur J Med Genet. 2016 Aug;59(8):363-6. doi: 10.1016/j.ejmg.2016.06.002. Epub 2016 Jun 6.

PMID:
27282802

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