isochromosome 18p Latest Research Papers

CLINICAL AND MOLECULAR FINDINGS IN NINE NEW CASES OF TETRASOMY 18p SYNDROME: CO-OCCURRENCE OF ISOCHROMOSOME 18p AND COPY NUMBER VARIATION

10.26226/morressier.5b5f433cb56e9b005965b92e ◽

2018 ◽

Author(s):

Wafa Slimani ◽

Jelloul Afef

Keyword(s):

Copy Number Variation ◽

Copy Number ◽

Tetrasomy 18P ◽

Number Variation ◽

Isochromosome 18P

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A case with isochromosome 18p and 2q13 deletion including the BUB1 gene

Clinical Dysmorphology ◽

10.1097/mcd.0000000000000223 ◽

2018 ◽

Vol 27 (3) ◽

pp. 101-104

Author(s):

Akif Ayaz ◽

Ali Topak ◽

Sinem Yalcintepe ◽

Tamer Celik ◽

Kanay Yararbas ◽

...

Keyword(s):

Isochromosome 18P ◽

2Q13 Deletion

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Primary Ovarian Insufficiency (POI) in Adolescent Female With Isochromosome 18P

Journal of Pediatric and Adolescent Gynecology ◽

10.1016/j.jpag.2017.03.060 ◽

2017 ◽

Vol 30 (2) ◽

pp. 295

Author(s):

Jane Geyer ◽

Jennifer Kurkowski ◽

Jennifer E. Dietrich

Keyword(s):

Primary Ovarian Insufficiency ◽

Adolescent Female ◽

Ovarian Insufficiency ◽

Isochromosome 18P

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Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies

Gene ◽

10.1016/j.gene.2015.01.042 ◽

2015 ◽

Vol 559 (1) ◽

pp. 94-98 ◽

Cited By ~ 4

Author(s):

Sushil Kumar Jaiswal ◽

Ashok Kumar ◽

Akhtar Ali ◽

Amit Kumar Rai

Keyword(s):

Congenital Anomalies ◽

Multiple Congenital Anomalies ◽

Isochromosome 18P

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Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.33639 ◽

2010 ◽

Vol 155 (1) ◽

pp. 225-227

Author(s):

Giuseppe Maria Maruotti ◽

Floriana Fabbrini ◽

Raffaele Napolitano ◽

Rita Genesio ◽

Anna Conti ◽

...

Keyword(s):

Trisomy 18 ◽

Isochromosome 18P

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De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Clinical Genetics ◽

10.1111/j.1399-0004.1994.tb04035.x ◽

2008 ◽

Vol 45 (6) ◽

pp. 301-304 ◽

Cited By ~ 10

Author(s):

Elke Back ◽

Roland Toder ◽

Ion Voiculescu ◽

Anke Wildberg ◽

Werner Schempp

Keyword(s):

Chromosome Painting ◽

De Novo ◽

Isochromosome 18P

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Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

Clinical Genetics ◽

10.1111/j.1399-0004.1991.tb03054.x ◽

2008 ◽

Vol 39 (6) ◽

pp. 429-433 ◽

Cited By ~ 17

Author(s):

Elisabeth Blennow ◽

Karen Bröndum Nielsen

Keyword(s):

In Situ Hybridization ◽

Molecular Identification ◽

Marker Chromosome ◽

Small Supernumerary Marker Chromosome ◽

Isochromosome 18P

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De novo isochromosome 18p in a female dysmorphic child

Journal of Applied Genetics ◽

10.1007/bf03194651 ◽

2006 ◽

Vol 47 (4) ◽

pp. 397-401 ◽

Cited By ~ 10

Author(s):

Smitha Ramegowda ◽

Harshavardhan M. Gawde ◽

Abbas Hyderi ◽

Mysore R. Savitha ◽

Zareen M. Patel ◽

...

Keyword(s):

De Novo ◽

Isochromosome 18P

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DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.30913 ◽

2005 ◽

Vol 138A (2) ◽

pp. 155-159 ◽

Cited By ~ 4

Author(s):

Ralph J. DeBerardinis ◽

Livija Medne ◽

Nancy B. Spinner ◽

Elaine H. Zackai

Keyword(s):

Diabetic Mother ◽

Isochromosome 18P ◽

Digeorge Anomaly

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Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

American Journal of Medical Genetics ◽

10.1002/ajmg.1295 ◽

2001 ◽

Vol 101 (1) ◽

pp. 65-69 ◽

Cited By ~ 19

Author(s):

Jane Boyle ◽

Karan Sangha ◽

Fred Dill ◽

Wendy P. Robinson ◽

Siu-Li Yong

Keyword(s):

Isochromosome 18P

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isochromosome 18p
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TOTAL DOCUMENTS

H-INDEX

CLINICAL AND MOLECULAR FINDINGS IN NINE NEW CASES OF TETRASOMY 18p SYNDROME: CO-OCCURRENCE OF ISOCHROMOSOME 18p AND COPY NUMBER VARIATION

A case with isochromosome 18p and 2q13 deletion including the BUB1 gene

Primary Ovarian Insufficiency (POI) in Adolescent Female With Isochromosome 18P

Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

De novo isochromosome 18p in a female dysmorphic child

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

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isochromosome 18pRecently Published Documents

TOTAL DOCUMENTS

H-INDEX

CLINICAL AND MOLECULAR FINDINGS IN NINE NEW CASES OF TETRASOMY 18p SYNDROME: CO-OCCURRENCE OF ISOCHROMOSOME 18p AND COPY NUMBER VARIATION

A case with isochromosome 18p and 2q13 deletion including the BUB1 gene

Primary Ovarian Insufficiency (POI) in Adolescent Female With Isochromosome 18P

Co-occurrence of mosaic supernumerary isochromosome 18p and intermittent 2q13 deletions in a child with multiple congenital anomalies

Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype?

De novo isochromosome 18p in two patients: cytogenetic diagnosis and confirmation by chromosome painting

Molecular identification of a small supernumerary marker chromosome by in situ hybridization: diagnosis of an isochromosome 18p with probe L1.84

De novo isochromosome 18p in a female dysmorphic child

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

isochromosome 18p
Recently Published Documents