Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 923 entries
Sorted by: Best Match Show Resources per page
Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.".

American journal of medical genetics. Part A

Skotko BG, Levine SP, Goldstein R.
PMID: 28421701
Am J Med Genet A. 2017 May;173(5):1453. doi: 10.1002/ajmg.a.38185. Epub 2017 Feb 16.

No abstract available.

Cite
Skotko BG, Levine SP, Goldstein R. Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.". Am J Med Genet A. 2017;173(5):1453doi: 10.1002/ajmg.a.38185.
Skotko, B. G., Levine, S. P., & Goldstein, R. (2017). Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.". American journal of medical genetics. Part A, 173(5), 1453. https://doi.org/10.1002/ajmg.a.38185
Skotko, Brian G, et al. "Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347."." American journal of medical genetics. Part A vol. 173,5 (2017): 1453. doi: https://doi.org/10.1002/ajmg.a.38185
Skotko BG, Levine SP, Goldstein R. Corrigendum to "Having a son or daughter with Down syndrome: Perspectives from mothers and fathers. Am J Med Genet Part A 155:2335-2347.". Am J Med Genet A. 2017 May;173(5):1453. doi: 10.1002/ajmg.a.38185. Epub 2017 Feb 16. PMID: 28421701.
Copy Download .nbib Format: NLM
Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2.

American journal of medical genetics. Part A

Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE.
PMID: 28447379
Am J Med Genet A. 2017 Jul;173(7):1988-1991. doi: 10.1002/ajmg.a.38203. Epub 2017 Apr 26.

No abstract available.

Cite
Garza-Flores A, Hawley P, Picker J, et al. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017;173(7):1988-1991doi: 10.1002/ajmg.a.38203.
Garza-Flores, A., Hawley, P., Picker, J., Tannebring, E., Deardorff, M. A., & Lin, A. E. (2017). Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. American journal of medical genetics. Part A, 173(7), 1988-1991. https://doi.org/10.1002/ajmg.a.38203
Garza-Flores, Alexandra, et al. "Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2." American journal of medical genetics. Part A vol. 173,7 (2017): 1988-1991. doi: https://doi.org/10.1002/ajmg.a.38203
Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017 Jul;173(7):1988-1991. doi: 10.1002/ajmg.a.38203. Epub 2017 Apr 26. PMID: 28447379.
Copy Download .nbib Format: NLM
Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

American journal of medical genetics. Part A

Lim HH, Kil HR, Koo SH.
PMID: 28485514
Am J Med Genet A. 2017 Jul;173(7):1961-1964. doi: 10.1002/ajmg.a.38276. Epub 2017 May 09.

Turner syndrome (TS), characterized by short stature and premature ovarian failure, is caused by chromosomal aberrations with total or partial loss of one of the two X chromosomes. Spontaneous puberty, menarche, and pregnancy occur in some patients depending on...

Cite
Lim HH, Kil HR, Koo SH. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review. Am J Med Genet A. 2017;173(7):1961-1964doi: 10.1002/ajmg.a.38276.
Lim, H. H., Kil, H. R., & Koo, S. H. (2017). Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review. American journal of medical genetics. Part A, 173(7), 1961-1964. https://doi.org/10.1002/ajmg.a.38276
Lim, Han Hyuk, et al. "Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review." American journal of medical genetics. Part A vol. 173,7 (2017): 1961-1964. doi: https://doi.org/10.1002/ajmg.a.38276
Lim HH, Kil HR, Koo SH. Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review. Am J Med Genet A. 2017 Jul;173(7):1961-1964. doi: 10.1002/ajmg.a.38276. Epub 2017 May 09. PMID: 28485514.
Copy Download .nbib Format: NLM
Genetic risk variants for social anxiety.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Stein MB, Chen CY, Jain S, Jensen KP, He F, Heeringa SG, Kessler RC, Maihofer A, Nock MK, Ripke S, Sun X, Thomas ML, Ursano RJ, Smoller JW, Gelernter J.
PMID: 28512750
Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):470-482. doi: 10.1002/ajmg.b.32541. Epub 2017 Apr 27.

No abstract available.

Cite
Stein MB, Chen CY, Jain S, et al. Genetic risk variants for social anxiety. Am J Med Genet B Neuropsychiatr Genet. 2017;174(4):470-482doi: 10.1002/ajmg.b.32541.
Stein, M. B., Chen, C. Y., Jain, S., Jensen, K. P., He, F., Heeringa, S. G., Kessler, R. C., Maihofer, A., Nock, M. K., Ripke, S., Sun, X., Thomas, M. L., Ursano, R. J., Smoller, J. W., Gelernter, J. (2017). Genetic risk variants for social anxiety. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 174(4), 470-482. https://doi.org/10.1002/ajmg.b.32541
Stein, Murray B, et al. "Genetic risk variants for social anxiety." American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 174,4 (2017): 470-482. doi: https://doi.org/10.1002/ajmg.b.32541
Stein MB, Chen CY, Jain S, Jensen KP, He F, Heeringa SG, Kessler RC, Maihofer A, Nock MK, Ripke S, Sun X, Thomas ML, Ursano RJ, Smoller JW, Gelernter J. Genetic risk variants for social anxiety. Am J Med Genet B Neuropsychiatr Genet. 2017 Jun;174(4):470-482. doi: 10.1002/ajmg.b.32541. Epub 2017 Apr 27. PMID: 28512750.
Copy Download .nbib Format: NLM
Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M.
PMID: 26174753
Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):480-491. doi: 10.1002/ajmg.b.32340. Epub 2015 Jul 14.

We performed a case-control association study in persistent ADHD considering eight candidate genes (DRD4, DAT1/SLC6A3, COMT, ADRA2A, CES1, CYP2D6, LPHN3, and OPRM1) and found additional evidence for the involvement of the Dup 120bp and VNTR 48bp functional variants within...

Cite
Sánchez-Mora C, Richarte V, Garcia-Martínez I, et al. Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015;168(6):480-491doi: 10.1002/ajmg.b.32340.
Sánchez-Mora, C., Richarte, V., Garcia-Martínez, I., Pagerols, M., Corrales, M., Bosch, R., Vidal, R., Viladevall, L., Casas, M., Cormand, B., Ramos-Quiroga, J. A., & Ribasés, M. (2015). Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 168(6), 480-491. https://doi.org/10.1002/ajmg.b.32340
Sánchez-Mora, Cristina, et al. "Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder." American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 168,6 (2015): 480-491. doi: https://doi.org/10.1002/ajmg.b.32340
Sánchez-Mora C, Richarte V, Garcia-Martínez I, Pagerols M, Corrales M, Bosch R, Vidal R, Viladevall L, Casas M, Cormand B, Ramos-Quiroga JA, Ribasés M. Dopamine receptor DRD4 gene and stressful life events in persistent attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2015 Sep;168(6):480-491. doi: 10.1002/ajmg.b.32340. Epub 2015 Jul 14. PMID: 26174753.
Copy Download .nbib Format: NLM
"CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014.

American journal of medical genetics. Part A

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.
PMID: 26097173
Am J Med Genet A. 2015 Jul;167(7):1682-3. doi: 10.1002/ajmg.a.36860. Epub 2015 May 05.

No abstract available.

Cite
Wenger TL, Harr M, Ricciardi S, et al. "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014. Am J Med Genet A. 2015;167(7):1682-3doi: 10.1002/ajmg.a.36860.
Wenger, T. L., Harr, M., Ricciardi, S., Bhoj, E., Santani, A., Adam, M. P., Barnett, S. S., Ganetzky, R., McDonald-McGinn, D. M., Battaglia, D., Bigoni, S., Selicorni, A., Sorge, G., Monica, M. D., Mari, F., Andreucci, E., Romano, S., Cocchi, G., Savasta, S., Malbora, B., Marangi, G., Garavelli, L., Zollino, M., & Zackai, E. H. (2015). "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014. American journal of medical genetics. Part A, 167(7), 1682-3. https://doi.org/10.1002/ajmg.a.36860
Wenger, Tara L, et al. ""CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014." American journal of medical genetics. Part A vol. 167,7 (2015): 1682-3. doi: https://doi.org/10.1002/ajmg.a.36860
Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014. Am J Med Genet A. 2015 Jul;167(7):1682-3. doi: 10.1002/ajmg.a.36860. Epub 2015 May 05. PMID: 26097173.
Copy Download .nbib Format: NLM
Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ().

American journal of medical genetics. Part A

Pérez-Aytés A, Arcos-Machancoses JV, Marin Reina P, Jimenez Busselo MT, Martínez F.
PMID: 28488275
Am J Med Genet A. 2017 Jul;173(7):1983-1984. doi: 10.1002/ajmg.a.38273. Epub 2017 May 09.

No abstract available.

Cite
Pérez-Aytés A, Arcos-Machancoses JV, Marin Reina P, et al. Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. (). Am J Med Genet A. 2017;173(7):1983-1984doi: 10.1002/ajmg.a.38273.
Pérez-Aytés, A., Arcos-Machancoses, J. V., Marin Reina, P., Jimenez Busselo, M. T., & Martínez, F. (2017). Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. (). American journal of medical genetics. Part A, 173(7), 1983-1984. https://doi.org/10.1002/ajmg.a.38273
Pérez-Aytés, Antonio, et al. "Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. ()." American journal of medical genetics. Part A vol. 173,7 (2017): 1983-1984. doi: https://doi.org/10.1002/ajmg.a.38273
Pérez-Aytés A, Arcos-Machancoses JV, Marin Reina P, Jimenez Busselo MT, Martínez F. Artificial reproductive techniques and epigenetic alterations: Additional comments to the article by Arcos-Machancoses et al. (). Am J Med Genet A. 2017 Jul;173(7):1983-1984. doi: 10.1002/ajmg.a.38273. Epub 2017 May 09. PMID: 28488275.
Copy Download .nbib Format: NLM
Cover Image, Volume 175C, Number 3, September 2017.

American journal of medical genetics. Part C, Seminars in medical genetics

[No authors listed]
PMID: 28910524
Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):i. doi: 10.1002/ajmg.c.31583.

The cover image, by Gene S. Fisch, is based on the Introduction Introduction to Behavioral Phenotypes In Medical Genetics, DOI: 10.1002/ajmg.c.31573.

Cite
Cover Image, Volume 175C, Number 3, September 2017. Am J Med Genet C Semin Med Genet. 2017;175(3):idoi: 10.1002/ajmg.c.31583.
(2017). Cover Image, Volume 175C, Number 3, September 2017. American journal of medical genetics. Part C, Seminars in medical genetics, 175(3), i. https://doi.org/10.1002/ajmg.c.31583
"Cover Image, Volume 175C, Number 3, September 2017." American journal of medical genetics. Part C, Seminars in medical genetics vol. 175,3 (2017): i. doi: https://doi.org/10.1002/ajmg.c.31583
Cover Image, Volume 175C, Number 3, September 2017. Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):i. doi: 10.1002/ajmg.c.31583. PMID: 28910524.
Copy Download .nbib Format: NLM
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.

American journal of medical genetics. Part A

Ackermann AM, Levine MA.
PMID: 28436160
Am J Med Genet A. 2017 Jul;173(7):1907-1912. doi: 10.1002/ajmg.a.38238. Epub 2017 Apr 24.

Heterozygous mutations in the genes encoding the proα1(I) or proα2(I) chains of type I procollagen (COL1A1 and COL1A2, respectively) account for most cases of osteogenesis imperfecta (OI), a disorder characterized by reduced bone strength and increased fracture risk. COL1A1...

Cite
Ackermann AM, Levine MA. Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. Am J Med Genet A. 2017;173(7):1907-1912doi: 10.1002/ajmg.a.38238.
Ackermann, A. M., & Levine, M. A. (2017). Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. American journal of medical genetics. Part A, 173(7), 1907-1912. https://doi.org/10.1002/ajmg.a.38238
Ackermann, Amanda M, and Levine, Michael A. "Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta." American journal of medical genetics. Part A vol. 173,7 (2017): 1907-1912. doi: https://doi.org/10.1002/ajmg.a.38238
Ackermann AM, Levine MA. Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta. Am J Med Genet A. 2017 Jul;173(7):1907-1912. doi: 10.1002/ajmg.a.38238. Epub 2017 Apr 24. PMID: 28436160.
Copy Download .nbib Format: NLM
Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease.

American journal of medical genetics. Part A

Ronan A, Ingrey A, Murray N, Chee P.
PMID: 28498512
Am J Med Genet A. 2017 Jul;173(7):1975-1978. doi: 10.1002/ajmg.a.38268. Epub 2017 May 12.

Darier disease and Acrokeratosis Verruciformis of Hopf (AKV) are rare disorders of keratinization with autosomal dominant inheritance and very distinct clinical pictures. Both have been shown to be caused by mutations in ATP2A2 (ATPase, Ca

Cite
Ronan A, Ingrey A, Murray N, et al. Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. Am J Med Genet A. 2017;173(7):1975-1978doi: 10.1002/ajmg.a.38268.
Ronan, A., Ingrey, A., Murray, N., & Chee, P. (2017). Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. American journal of medical genetics. Part A, 173(7), 1975-1978. https://doi.org/10.1002/ajmg.a.38268
Ronan, Anne, et al. "Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease." American journal of medical genetics. Part A vol. 173,7 (2017): 1975-1978. doi: https://doi.org/10.1002/ajmg.a.38268
Ronan A, Ingrey A, Murray N, Chee P. Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. Am J Med Genet A. 2017 Jul;173(7):1975-1978. doi: 10.1002/ajmg.a.38268. Epub 2017 May 12. PMID: 28498512.
Copy Download .nbib Format: NLM
Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

American journal of medical genetics. Part A

Hague J, Delon I, Brugger K, Martin H, Sparnon L, Simonic I, Abbs S, Park SM.
PMID: 28497491
Am J Med Genet A. 2017 Jul;173(7):1931-1935. doi: 10.1002/ajmg.a.38261. Epub 2017 May 12.

Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical...

Cite
Hague J, Delon I, Brugger K, et al. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Am J Med Genet A. 2017;173(7):1931-1935doi: 10.1002/ajmg.a.38261.
Hague, J., Delon, I., Brugger, K., Martin, H., Sparnon, L., Simonic, I., Abbs, S., & Park, S. M. (2017). Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. American journal of medical genetics. Part A, 173(7), 1931-1935. https://doi.org/10.1002/ajmg.a.38261
Hague, Jennifer, et al. "Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation." American journal of medical genetics. Part A vol. 173,7 (2017): 1931-1935. doi: https://doi.org/10.1002/ajmg.a.38261
Hague J, Delon I, Brugger K, Martin H, Sparnon L, Simonic I, Abbs S, Park SM. Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation. Am J Med Genet A. 2017 Jul;173(7):1931-1935. doi: 10.1002/ajmg.a.38261. Epub 2017 May 12. PMID: 28497491.
Copy Download .nbib Format: NLM
Special issue: Robert J. Gorlin Festschrift.

American journal of medical genetics

[No authors listed]
PMID: 8266984
Am J Med Genet. 1993 Oct 01;47(5):575-806. doi: 10.1002/ajmg.1320470502.

No abstract available.

Cite
Special issue: Robert J. Gorlin Festschrift. Am J Med Genet. 1993;47(5):575-806doi: 10.1002/ajmg.1320470502.
(1993). Special issue: Robert J. Gorlin Festschrift. American journal of medical genetics, 47(5), 575-806. https://doi.org/10.1002/ajmg.1320470502
"Special issue: Robert J. Gorlin Festschrift." American journal of medical genetics vol. 47,5 (1993): 575-806. doi: https://doi.org/10.1002/ajmg.1320470502
Special issue: Robert J. Gorlin Festschrift. Am J Med Genet. 1993 Oct 01;47(5):575-806. doi: 10.1002/ajmg.1320470502. PMID: 8266984.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 923 entries