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11p13 microduplication: a differential diagnosis of Silver–Russell syndrome? (2024)

Amin, Asmaa K. [Verfasser] ; Krause, Jeremias [Verfasser] ; Eggermann, Thomas [Verfasser] ; [et al.]

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UID:

(DE-101)132971931X

Format: 1 Online-Ressource.

ISSN: 1755-8166

In: volume:17

In: number:1

In: day:14

In: month:3

In: year:2024

In: pages:1-5

In: date:12.2024

In: Molecular cytogenetics, London : BioMed Central, 2008-, 17, Heft 1 (14.3.2024), 1-5, 12.2024, 1755-8166

Language: English

DOI: 10.1186/s13039-024-00672-6

URN: urn:nbn:de:101:1-2405162112592.612373673239

URL: https://doi.org/10.1186/s13039-024-00672-6

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2405162112592.612373673239

URL: https://d-nb.info/132971931X/34

URL: https://doi.org/10.1186/s13039-024-00672-6

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2

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12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments (2016)

Leyser, Marcio [Verfasser] ; Dias, Bruno Leonardo [Sonstige] ; Coelho, Ana Luiza [Sonstige] ; [et al.]

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UID:

(DE-101)1117414515

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:9

In: number:1

In: day:4

In: month:10

In: year:2016

In: pages:1-12

In: date:12.2016

In: Molecular cytogenetics, London : BioMed Central, 2008-, 9, Heft 1 (4.10.2016), 1-12, 12.2016, 1755-8166

Language: English

DOI: 10.1186/s13039-016-0278-0

URN: urn:nbn:de:1111-201610307795

URL: https://doi.org/10.1186/s13039-016-0278-0

URL: https://nbn-resolving.org/urn:nbn:de:1111-201610307795

URL: https://d-nb.info/1117414515/34

URL: http://dx.doi.org/10.1186/s13039-016-0278-0

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3

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13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping (2020)

Dittner-Moormann, Sabine [Verfasser] ; Reschke, Madlen [Verfasser] ; Biewald, Eva [Verfasser] ; [et al.]

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UID:

(DE-101)1217775293

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:13

In: number:1

In: day:23

In: month:7

In: year:2020

In: pages:1-5

In: date:12.2020

In: Molecular cytogenetics, London : BioMed Central, 2008-, 13, Heft 1 (23.7.2020), 1-5, 12.2020, 1755-8166

Language: English

DOI: 10.1186/s13039-020-00500-7

URN: urn:nbn:de:101:1-2020091622343757798690

URL: https://doi.org/10.1186/s13039-020-00500-7

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2020091622343757798690

URL: https://d-nb.info/1217775293/34

URL: https://doi.org/10.1186/s13039-020-00500-7

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4

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13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature (2018)

Bestetti, Ilaria [Verfasser] ; Sironi, Alessandra [Sonstige] ; Catusi, Ilaria [Sonstige] ; [et al.]

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UID:

(DE-101)1171034490

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:11

In: number:1

In: day:19

In: month:9

In: year:2018

In: pages:1-8

In: date:12.2018

In: Molecular cytogenetics, London : BioMed Central, 2008-, 11, Heft 1 (19.9.2018), 1-8, 12.2018, 1755-8166

Language: English

DOI: 10.1186/s13039-018-0401-5

URN: urn:nbn:de:101:1-2018110923135456852976

URL: https://doi.org/10.1186/s13039-018-0401-5

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2018110923135456852976

URL: https://d-nb.info/1171034490/34

URL: http://dx.doi.org/10.1186/s13039-018-0401-5

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5

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14q32.3-qter trisomic segment: a case report and literature review (2016)

Villa, Nicoletta [Verfasser] ; Scatigno, Agnese [Mitwirkender] ; Redaelli, Serena [Mitwirkender] ; [et al.]

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UID:

(DE-101)1112775587

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:9

In: number:1

In: day:5

In: month:8

In: year:2016

In: pages:1-9

In: date:12.2016

In: Molecular cytogenetics, London : BioMed Central, 2008-, 9, Heft 1 (5.8.2016), 1-9, 12.2016, 1755-8166

Language: English

DOI: 10.1186/s13039-016-0265-5

URN: urn:nbn:de:1111-201609025178

URL: https://doi.org/10.1186/s13039-016-0265-5

URL: https://nbn-resolving.org/urn:nbn:de:1111-201609025178

URL: https://d-nb.info/1112775587/34

URL: http://dx.doi.org/10.1186/s13039-016-0265-5

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6

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16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance (2014)

Sun, Mingran [Verfasser] ; Zhang, Han [Verfasser] ; Li, Guiying [Verfasser] ; [et al.]

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UID:

(DE-101)1238577830

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:7

In: number:1

In: day:25

In: month:11

In: year:2014

In: pages:1-10

In: date:12.2014

In: Molecular cytogenetics, London : BioMed Central, 2008-, 7, Heft 1 (25.11.2014), 1-10, 12.2014, 1755-8166

Language: English

DOI: 10.1186/s13039-014-0076-5

URN: urn:nbn:de:101:1-2021080918592998447694

URL: https://doi.org/10.1186/s13039-014-0076-5

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2021080918592998447694

URL: https://d-nb.info/1238577830/34

URL: https://doi.org/10.1186/s13039-014-0076-5

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7

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17q25.3 copy number changes: association with neurodevelopmental disorders and cardiac malformation (2023)

Sahajpal, Nikhil Shri [Verfasser] ; Jeffrey, David H. F. [Verfasser] ; DuPont, Barbara R. [Verfasser] ; [et al.]

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Details

UID:

(DE-101)1305952987

Format: Online-Ressource, 1 online resource.

ISSN: 1755-8166

In: volume:16

In: number:1

In: day:10

In: month:7

In: year:2023

In: pages:1-11

In: date:12.2023

In: Molecular cytogenetics, London : BioMed Central, 2008-, 16, Heft 1 (10.7.2023), 1-11, 12.2023, 1755-8166

Language: English

DOI: 10.1186/s13039-023-00644-2

URN: urn:nbn:de:101:1-2023101308341901011823

URL: https://doi.org/10.1186/s13039-023-00644-2

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2023101308341901011823

URL: https://d-nb.info/1305952987/34

URL: https://doi.org/10.1186/s13039-023-00644-2

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8

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18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature (2018)

Wang, Chunjing [Verfasser] ; Ren, Huanhuan [Sonstige] ; Dong, Huaifu [Sonstige] ; [et al.]

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UID:

(DE-101)1172277060

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:11

In: number:1

In: day:19

In: month:10

In: year:2018

In: pages:1-7

In: date:12.2018

In: Molecular cytogenetics, London : BioMed Central, 2008-, 11, Heft 1 (19.10.2018), 1-7, 12.2018, 1755-8166

Language: English

DOI: 10.1186/s13039-018-0404-2

URN: urn:nbn:de:101:1-2018112622042010012080

URL: https://doi.org/10.1186/s13039-018-0404-2

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2018112622042010012080

URL: https://d-nb.info/1172277060/34

URL: http://dx.doi.org/10.1186/s13039-018-0404-2

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9

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19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome (2016)

Dong, Hai-Yun [Verfasser] ; Zeng, Hui [Sonstige] ; Hu, Yi-Qiao [Sonstige] ; [et al.]

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Details

UID:

(DE-101)1116873036

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:9

In: number:1

In: day:22

In: month:9

In: year:2016

In: pages:1-6

In: date:12.2016

In: Molecular cytogenetics, London : BioMed Central, 2008-, 9, Heft 1 (22.9.2016), 1-6, 12.2016, 1755-8166

Language: English

DOI: 10.1186/s13039-016-0282-4

URN: urn:nbn:de:1111-2016102311273

URL: https://doi.org/10.1186/s13039-016-0282-4

URL: https://nbn-resolving.org/urn:nbn:de:1111-2016102311273

URL: https://d-nb.info/1116873036/34

URL: http://dx.doi.org/10.1186/s13039-016-0282-4

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10

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19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype (2014)

Venegas-Vega, Carlos [Verfasser] ; Nieto-Martínez, Karem [Verfasser] ; Martínez-Herrera, Alejandro [Verfasser] ; [et al.]

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Details

UID:

(DE-101)1239637810

Format: Online-Ressource , online resource.

ISSN: 1755-8166 , 1755-8166

In: volume:7

In: number:1

In: day:12

In: month:12

In: year:2014

In: pages:1-7

In: date:12.2014

In: Molecular cytogenetics, London : BioMed Central, 2008-, 7, Heft 1 (12.12.2014), 1-7, 12.2014, 1755-8166

Language: English

DOI: 10.1186/s13039-014-0061-z

URN: urn:nbn:de:101:1-2021082320182024341694

URL: https://doi.org/10.1186/s13039-014-0061-z

URL: https://nbn-resolving.org/urn:nbn:de:101:1-2021082320182024341694

URL: https://d-nb.info/1239637810/34

URL: https://doi.org/10.1186/s13039-014-0061-z

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