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Showing 1 to 12 of 43 entries
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X-Autosome translocations: X-inactivation and effect on phenotype.

Clinical dysmorphology

Strong A, Callahan KP, Guo R, Ron H, Zackai EH.
PMID: 34148988
Clin Dysmorphol. 2021 Oct 01;30(4):186-188. doi: 10.1097/MCD.0000000000000381.

No abstract available.

Cite
Strong A, Callahan KP, Guo R, et al. X-Autosome translocations: X-inactivation and effect on phenotype. Clin Dysmorphol. 2021;30(4):186-188doi: 10.1097/MCD.0000000000000381.
Strong, A., Callahan, K. P., Guo, R., Ron, H., & Zackai, E. H. (2021). X-Autosome translocations: X-inactivation and effect on phenotype. Clinical dysmorphology, 30(4), 186-188. https://doi.org/10.1097/MCD.0000000000000381
Strong, Alanna, et al. "X-Autosome translocations: X-inactivation and effect on phenotype." Clinical dysmorphology vol. 30,4 (2021): 186-188. doi: https://doi.org/10.1097/MCD.0000000000000381
Strong A, Callahan KP, Guo R, Ron H, Zackai EH. X-Autosome translocations: X-inactivation and effect on phenotype. Clin Dysmorphol. 2021 Oct 01;30(4):186-188. doi: 10.1097/MCD.0000000000000381. PMID: 34148988.
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CK syndrome: a rare cause of developmental delay in a young boy.

Clinical dysmorphology

Garg M, Kulkarni SD, Sayed R, Hegde AU.
PMID: 34091503
Clin Dysmorphol. 2021 Oct 01;30(4):201-203. doi: 10.1097/MCD.0000000000000379.

CK syndrome is a rare disorder caused by mutation in the NSDHL (NAD(P) dependent steroid dehydrogenase-like) gene at the Xq28 locus. It has expanded the spectrum of disorders associated with X-linked mental retardation and defects in sterol metabolism. There...

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Garg M, Kulkarni SD, Sayed R, et al. CK syndrome: a rare cause of developmental delay in a young boy. Clin Dysmorphol. 2021;30(4):201-203doi: 10.1097/MCD.0000000000000379.
Garg, M., Kulkarni, S. D., Sayed, R., & Hegde, A. U. (2021). CK syndrome: a rare cause of developmental delay in a young boy. Clinical dysmorphology, 30(4), 201-203. https://doi.org/10.1097/MCD.0000000000000379
Garg, Meenal, et al. "CK syndrome: a rare cause of developmental delay in a young boy." Clinical dysmorphology vol. 30,4 (2021): 201-203. doi: https://doi.org/10.1097/MCD.0000000000000379
Garg M, Kulkarni SD, Sayed R, Hegde AU. CK syndrome: a rare cause of developmental delay in a young boy. Clin Dysmorphol. 2021 Oct 01;30(4):201-203. doi: 10.1097/MCD.0000000000000379. PMID: 34091503.
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Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.

Clinical dysmorphology

Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J, Moore S, Yoong M, Chatterjee F, Ghali N.
PMID: 34954732
Clin Dysmorphol. 2021 Dec 24; doi: 10.1097/MCD.0000000000000404. Epub 2021 Dec 24.

No abstract available.

Cite
Pickwick C, Callewaert B, van Dijk F, et al. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Clin Dysmorphol. 2021;doi: 10.1097/MCD.0000000000000404.
Pickwick, C., Callewaert, B., van Dijk, F., Harris, J., Wakeling, E., Hay, E., Yeo, M., Chakrapani, A., Baptista, J., Moore, S., Yoong, M., Chatterjee, F., & Ghali, N. (2021). Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Clinical dysmorphology, . https://doi.org/10.1097/MCD.0000000000000404
Pickwick, Charlotte, et al. "Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings." Clinical dysmorphology vol. (2021). doi: https://doi.org/10.1097/MCD.0000000000000404
Pickwick C, Callewaert B, van Dijk F, Harris J, Wakeling E, Hay E, Yeo M, Chakrapani A, Baptista J, Moore S, Yoong M, Chatterjee F, Ghali N. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Clin Dysmorphol. 2021 Dec 24; doi: 10.1097/MCD.0000000000000404. Epub 2021 Dec 24. PMID: 34954732.
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Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient.

Clinical dysmorphology

Paz-Ramírez M, Muñoz-Martínez LB, Morales-Jiménez AB, Morán-Barroso VF, García-Delgado C, Azotla-Vilchis CN, Márquez-Quiroz LC, Astiazarán MC.
PMID: 34750319
Clin Dysmorphol. 2021 Nov 08; doi: 10.1097/MCD.0000000000000402. Epub 2021 Nov 08.

No abstract available.

Cite
Paz-Ramírez M, Muñoz-Martínez LB, Morales-Jiménez AB, et al. Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient. Clin Dysmorphol. 2021;doi: 10.1097/MCD.0000000000000402.
Paz-Ramírez, M., Muñoz-Martínez, L. B., Morales-Jiménez, A. B., Morán-Barroso, V. F., García-Delgado, C., Azotla-Vilchis, C. N., Márquez-Quiroz, L. C., & Astiazarán, M. C. (2021). Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient. Clinical dysmorphology, . https://doi.org/10.1097/MCD.0000000000000402
Paz-Ramírez, Monserrat, et al. "Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient." Clinical dysmorphology vol. (2021). doi: https://doi.org/10.1097/MCD.0000000000000402
Paz-Ramírez M, Muñoz-Martínez LB, Morales-Jiménez AB, Morán-Barroso VF, García-Delgado C, Azotla-Vilchis CN, Márquez-Quiroz LC, Astiazarán MC. Silver-Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient. Clin Dysmorphol. 2021 Nov 08; doi: 10.1097/MCD.0000000000000402. Epub 2021 Nov 08. PMID: 34750319.
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A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis.

Clinical dysmorphology

Zhu H, Chen Y, Niu Y, Zhang Y, Chen L.
PMID: 34750320
Clin Dysmorphol. 2021 Nov 08; doi: 10.1097/MCD.0000000000000401. Epub 2021 Nov 08.

No abstract available.

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Zhu H, Chen Y, Niu Y, et al. A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis. Clin Dysmorphol. 2021;doi: 10.1097/MCD.0000000000000401.
Zhu, H., Chen, Y., Niu, Y., Zhang, Y., & Chen, L. (2021). A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis. Clinical dysmorphology, . https://doi.org/10.1097/MCD.0000000000000401
Zhu, Haiyan, et al. "A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis." Clinical dysmorphology vol. (2021). doi: https://doi.org/10.1097/MCD.0000000000000401
Zhu H, Chen Y, Niu Y, Zhang Y, Chen L. A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis. Clin Dysmorphol. 2021 Nov 08; doi: 10.1097/MCD.0000000000000401. Epub 2021 Nov 08. PMID: 34750320.
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Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.

Clinical dysmorphology

Dawson AJ, Hovanes K, Liu J, Marles S, Greenberg C, Mhanni A, Chudley A, Frosk P, Sahoo T, Schanze D, Zenker M.
PMID: 33038106
Clin Dysmorphol. 2021 Apr 01;30(2):83-88. doi: 10.1097/MCD.0000000000000351.

Recessive mutations in FRAS1-related extracellular matrix 1 (FREM1) are associated with two rare genetic disorders, Manitoba-oculo-tricho-anal (MOTA) and bifid nose with or without anorectal and renal anomalies (BNAR). Fraser syndrome is a more severe disorder that shows phenotypic overlap...

Cite
Dawson AJ, Hovanes K, Liu J, et al. Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. Clin Dysmorphol. 2021;30(2):83-88doi: 10.1097/MCD.0000000000000351.
Dawson, A. J., Hovanes, K., Liu, J., Marles, S., Greenberg, C., Mhanni, A., Chudley, A., Frosk, P., Sahoo, T., Schanze, D., & Zenker, M. (2021). Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. Clinical dysmorphology, 30(2), 83-88. https://doi.org/10.1097/MCD.0000000000000351
Dawson, Angelika J, et al. "Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly." Clinical dysmorphology vol. 30,2 (2021): 83-88. doi: https://doi.org/10.1097/MCD.0000000000000351
Dawson AJ, Hovanes K, Liu J, Marles S, Greenberg C, Mhanni A, Chudley A, Frosk P, Sahoo T, Schanze D, Zenker M. Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly. Clin Dysmorphol. 2021 Apr 01;30(2):83-88. doi: 10.1097/MCD.0000000000000351. PMID: 33038106.
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Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly.

Clinical dysmorphology

Xu S, Zhang W, Zhou R, Huang H, Chen W, Xiang W, Liu L, Song J.
PMID: 34693918
Clin Dysmorphol. 2022 Jan 01;31(1):1-5. doi: 10.1097/MCD.0000000000000395.

Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from China. Here, we report...

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Xu S, Zhang W, Zhou R, et al. Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly. Clin Dysmorphol. 2022;31(1):1-5doi: 10.1097/MCD.0000000000000395.
Xu, S., Zhang, W., Zhou, R., Huang, H., Chen, W., Xiang, W., Liu, L., & Song, J. (2022). Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly. Clinical dysmorphology, 31(1), 1-5. https://doi.org/10.1097/MCD.0000000000000395
Xu, Shuqin, et al. "Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly." Clinical dysmorphology vol. 31,1 (2022): 1-5. doi: https://doi.org/10.1097/MCD.0000000000000395
Xu S, Zhang W, Zhou R, Huang H, Chen W, Xiang W, Liu L, Song J. Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly. Clin Dysmorphol. 2022 Jan 01;31(1):1-5. doi: 10.1097/MCD.0000000000000395. PMID: 34693918.
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Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome.

Clinical dysmorphology

Ozkale Yavuz O, Yildiz AE, Aydingoz U.
PMID: 34775450
Clin Dysmorphol. 2022 Jan 01;31(1):28-30. doi: 10.1097/MCD.0000000000000400.

No abstract available.

Cite
Ozkale Yavuz O, Yildiz AE, Aydingoz U. Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome. Clin Dysmorphol. 2022;31(1):28-30doi: 10.1097/MCD.0000000000000400.
Ozkale Yavuz, O., Yildiz, A. E., & Aydingoz, U. (2022). Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome. Clinical dysmorphology, 31(1), 28-30. https://doi.org/10.1097/MCD.0000000000000400
Ozkale Yavuz, Ozlem, et al. "Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome." Clinical dysmorphology vol. 31,1 (2022): 28-30. doi: https://doi.org/10.1097/MCD.0000000000000400
Ozkale Yavuz O, Yildiz AE, Aydingoz U. Atypical medial femoral condylar fracture in Stuve-Wiedemann syndrome. Clin Dysmorphol. 2022 Jan 01;31(1):28-30. doi: 10.1097/MCD.0000000000000400. PMID: 34775450.
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Angelman syndrome with a 15q11q13 deletion in a mother and daughter.

Clinical dysmorphology

Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE.
PMID: 34775449
Clin Dysmorphol. 2021 Nov 12; doi: 10.1097/MCD.0000000000000399. Epub 2021 Nov 12.

No abstract available.

Cite
Bell S, Butler KM, Drazba KT, et al. Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clin Dysmorphol. 2021;doi: 10.1097/MCD.0000000000000399.
Bell, S., Butler, K. M., Drazba, K. T., Lynch, J., Abidi, F. E., DuPont, B., & Stevenson, R. E. (2021). Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clinical dysmorphology, . https://doi.org/10.1097/MCD.0000000000000399
Bell, Shannon, et al. "Angelman syndrome with a 15q11q13 deletion in a mother and daughter." Clinical dysmorphology vol. (2021). doi: https://doi.org/10.1097/MCD.0000000000000399
Bell S, Butler KM, Drazba KT, Lynch J, Abidi FE, DuPont B, Stevenson RE. Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Clin Dysmorphol. 2021 Nov 12; doi: 10.1097/MCD.0000000000000399. Epub 2021 Nov 12. PMID: 34775449.
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Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient.

Clinical dysmorphology

Balakrishnan S, Ranganath P.
PMID: 34456245
Clin Dysmorphol. 2021 Oct 01;30(4):204-206. doi: 10.1097/MCD.0000000000000385.

No abstract available.

Cite
Balakrishnan S, Ranganath P. Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient. Clin Dysmorphol. 2021;30(4):204-206doi: 10.1097/MCD.0000000000000385.
Balakrishnan, S., & Ranganath, P. (2021). Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient. Clinical dysmorphology, 30(4), 204-206. https://doi.org/10.1097/MCD.0000000000000385
Balakrishnan, Surya, and Ranganath, Prajnya. "Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient." Clinical dysmorphology vol. 30,4 (2021): 204-206. doi: https://doi.org/10.1097/MCD.0000000000000385
Balakrishnan S, Ranganath P. Report of an unusual association of hydrosyringomyelia with Gabriele-de Vries syndrome in an Asian-Indian patient. Clin Dysmorphol. 2021 Oct 01;30(4):204-206. doi: 10.1097/MCD.0000000000000385. PMID: 34456245.
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Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding.

Clinical dysmorphology

Kilci F, Hürmüzlü-Kozler S, Jones J, Doğan K, Cerrah Güneş M, Çizmecioğlu-Jones FM.
PMID: 34620752
Clin Dysmorphol. 2022 Jan 01;31(1):42-44. doi: 10.1097/MCD.0000000000000396.

No abstract available.

Cite
Kilci F, Hürmüzlü-Kozler S, Jones J, et al. Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding. Clin Dysmorphol. 2022;31(1):42-44doi: 10.1097/MCD.0000000000000396.
Kilci, F., Hürmüzlü-Kozler, S., Jones, J., Doğan, K., Cerrah Güneş, M., & Çizmecioğlu-Jones, F. M. (2022). Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding. Clinical dysmorphology, 31(1), 42-44. https://doi.org/10.1097/MCD.0000000000000396
Kilci, Fatih, et al. "Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding." Clinical dysmorphology vol. 31,1 (2022): 42-44. doi: https://doi.org/10.1097/MCD.0000000000000396
Kilci F, Hürmüzlü-Kozler S, Jones J, Doğan K, Cerrah Güneş M, Çizmecioğlu-Jones FM. Myhre syndrome associated with hyperinsulinism and impaired glucose tolerance: a novel finding. Clin Dysmorphol. 2022 Jan 01;31(1):42-44. doi: 10.1097/MCD.0000000000000396. PMID: 34620752.
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A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness.

Clinical dysmorphology

Kapoor D, Anand A, Siddiqui S, Sharma S.
PMID: 34561314
Clin Dysmorphol. 2022 Jan 01;31(1):39-41. doi: 10.1097/MCD.0000000000000393.

No abstract available.

Cite
Kapoor D, Anand A, Siddiqui S, et al. A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness. Clin Dysmorphol. 2022;31(1):39-41doi: 10.1097/MCD.0000000000000393.
Kapoor, D., Anand, A., Siddiqui, S., & Sharma, S. (2022). A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness. Clinical dysmorphology, 31(1), 39-41. https://doi.org/10.1097/MCD.0000000000000393
Kapoor, Dipti, et al. "A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness." Clinical dysmorphology vol. 31,1 (2022): 39-41. doi: https://doi.org/10.1097/MCD.0000000000000393
Kapoor D, Anand A, Siddiqui S, Sharma S. A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness. Clin Dysmorphol. 2022 Jan 01;31(1):39-41. doi: 10.1097/MCD.0000000000000393. PMID: 34561314.
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Showing 1 to 12 of 43 entries