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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.

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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.
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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.

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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.
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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...

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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.
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"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.

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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.
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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.

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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.
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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...

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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.
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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

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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.
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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...

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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.
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Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports.

American journal of medical genetics. Part A

Aylsworth A, Graham JM, Hall JG, Hoyme HE, Jones KL, Stevenson RE.
PMID: 12707969
Am J Med Genet A. 2003 May 15;119(1):93; discussion 94. doi: 10.1002/ajmg.a.10185.

No abstract available.

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Aylsworth A, Graham JM, Hall JG, et al. Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet A. 2003;119(1):93; discussion 94doi: 10.1002/ajmg.a.10185.
Aylsworth, A., Graham, J. M., Hall, J. G., Hoyme, H. E., Jones, K. L., & Stevenson, R. E. (2003). Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. American journal of medical genetics. Part A, 119(1), 93; discussion 94. https://doi.org/10.1002/ajmg.a.10185
Aylsworth, Art, et al. "Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports." American journal of medical genetics. Part A vol. 119,1 (2003): 93; discussion 94. doi: https://doi.org/10.1002/ajmg.a.10185
Aylsworth A, Graham JM, Hall JG, Hoyme HE, Jones KL, Stevenson RE. Morphogenesis: Re: Clinical, natural history, and imaging information on patients included in reports. Am J Med Genet A. 2003 May 15;119(1):93; discussion 94. doi: 10.1002/ajmg.a.10185. PMID: 12707969.
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Invited comment on terminology.

American journal of medical genetics. Part A

Moeschler JB, Nisbeft J.
PMID: 21412970
Am J Med Genet A. 2011 May;155(5):972-3. doi: 10.1002/ajmg.a.33830. Epub 2011 Mar 15.

No abstract available.

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Moeschler JB, Nisbeft J. Invited comment on terminology. Am J Med Genet A. 2011;155(5):972-3doi: 10.1002/ajmg.a.33830.
Moeschler, J. B., & Nisbeft, J. (2011). Invited comment on terminology. American journal of medical genetics. Part A, 155(5), 972-3. https://doi.org/10.1002/ajmg.a.33830
Moeschler, John B, and Nisbeft, Jan. "Invited comment on terminology." American journal of medical genetics. Part A vol. 155,5 (2011): 972-3. doi: https://doi.org/10.1002/ajmg.a.33830
Moeschler JB, Nisbeft J. Invited comment on terminology. Am J Med Genet A. 2011 May;155(5):972-3. doi: 10.1002/ajmg.a.33830. Epub 2011 Mar 15. PMID: 21412970.
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Federal Advisory committee on genetics devises final recommendations.

American journal of medical genetics. Part A

[No authors listed]
PMID: 21271637
Am J Med Genet A. 2011 Feb;155(2):fmix. doi: 10.1002/ajmg.a.33920.

No abstract available.

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Federal Advisory committee on genetics devises final recommendations. Am J Med Genet A. 2011;155(2):fmixdoi: 10.1002/ajmg.a.33920.
(2011). Federal Advisory committee on genetics devises final recommendations. American journal of medical genetics. Part A, 155(2), fmix. https://doi.org/10.1002/ajmg.a.33920
"Federal Advisory committee on genetics devises final recommendations." American journal of medical genetics. Part A vol. 155,2 (2011): fmix. doi: https://doi.org/10.1002/ajmg.a.33920
Federal Advisory committee on genetics devises final recommendations. Am J Med Genet A. 2011 Feb;155(2):fmix. doi: 10.1002/ajmg.a.33920. PMID: 21271637.
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Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.

American journal of medical genetics. Part A

Clarke CM, Fok VT, Gustafson JA, Smyth MD, Timms AE, Frazar CD, Smith JD, Birgfeld CB, Lee A, Ellenbogen RG, Gruss JS, Hopper RA, Cunningham ML.
PMID: 29168297
Am J Med Genet A. 2018 Feb;176(2):290-300. doi: 10.1002/ajmg.a.38540. Epub 2017 Nov 23.

We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR,...

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Clarke CM, Fok VT, Gustafson JA, et al. Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2017;176(2):290-300doi: 10.1002/ajmg.a.38540.
Clarke, C. M., Fok, V. T., Gustafson, J. A., Smyth, M. D., Timms, A. E., Frazar, C. D., Smith, J. D., Birgfeld, C. B., Lee, A., Ellenbogen, R. G., Gruss, J. S., Hopper, R. A., & Cunningham, M. L. (2018). Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. American journal of medical genetics. Part A, 176(2), 290-300. https://doi.org/10.1002/ajmg.a.38540
Clarke, Christine M, et al. "Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms." American journal of medical genetics. Part A vol. 176,2 (2018): 290-300. doi: https://doi.org/10.1002/ajmg.a.38540
Clarke CM, Fok VT, Gustafson JA, Smyth MD, Timms AE, Frazar CD, Smith JD, Birgfeld CB, Lee A, Ellenbogen RG, Gruss JS, Hopper RA, Cunningham ML. Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms. Am J Med Genet A. 2018 Feb;176(2):290-300. doi: 10.1002/ajmg.a.38540. Epub 2017 Nov 23. PMID: 29168297; PMCID: PMC5768450.
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Showing 1 to 12 of 752 entries