(1/16) Commissural malformations: beyond the corpus callosum.

 (+info)

(2/16) Auditory interhemispheric transfer in relation to patterns of partial agenesis and hypoplasia of the corpus callosum in spina bifida meningomyelocele.

 (+info)

(3/16) Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus.

 (+info)

(4/16) Variability of homotopic and heterotopic callosal connectivity in partial agenesis of the corpus callosum: a 3T diffusion tensor imaging and Q-ball tractography study.

 (+info)

(5/16) Partial agenesis of the corpus callosum in spina bifida meningomyelocele and potential compensatory mechanisms.

 (+info)

(6/16) Why schizophrenia epidemiology needs neurobiology--and vice versa.

 (+info)

(7/16) Transient neuronal populations are required to guide callosal axons: a role for semaphorin 3C.

 (+info)

(8/16) Diffusion-weighted imaging in fetuses with unilateral cortical malformations and callosal agenesis.

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*  Acrocallosal syndrome
... rarediseases.info.nih.gov/gard/5721/acrocallosal-syndrome-schinzel-type/resources/1 Acrocallosal syndrome, Schinzel type at ... The syndrome was first described by Albert Schinzel in 1979. It is associated with GLI3. Acrocallosal syndrome (ACLS, ACS, ... Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, ... Elson E.; Perveen R.; Donnai D.; Wall S.; Black G.C.M. (2002). "De novo GLI3 mutation in acrocallosal syndrome:broadening the ...
*  List of OMIM disorder codes
CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778; IHH Acrodermatitis enteropathica; 201100; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
*  Stanislas Lyonnet
Costal2 (KIF7) mutations cause fetal Hydrolethalus and Acrocallosal syndromes and expand the ciliopathy spectrum. Nat Genet ... Mutant WD-repeat protein in triple-A syndrome. Nat Genet 2000, 26 : 332-5. Bolk S, Pelet A, Hofstra RM, Angrist M, Salomon R, ... His research team at Imagine focuses on forms of neurocristopathy and fetal syndromes that result from abnormal development of ... PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 2005, 76: ...
*  List of syndromes
... cataract syndrome Acrocallosal syndrome Acropectoral syndrome Acro-dermato-ungual-lacrimal-tooth syndrome Activation syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Hero syndrome Heyde's syndrome High-rise syndrome HIV/AIDS Holiday heart syndrome Holt-Oram syndrome Hopkins syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ...
*  ACLS
... may refer to: Access control list, a list of permissions attached to an object in computer security Acrocallosal syndrome ...
*  List of diseases (A)
Acral renal mandibular syndrome Acro coxo mesomelic dysplasia Acrofrontofacionasal dysostosis Acrocallosal syndrome, Schinzel ... syndrome Aarskog-Ose-Pande syndrome Aarskog syndrome Aase-Smith syndrome Anti amnistic syndrome Aase syndrome ABCD syndrome ... syndrome Akesson syndrome Aksu-Stckhausen syndrome Al Awadi Teebi Farag syndrome Al Frayh Facharzt Haque syndrome Al Gazali Al ... Alien hand syndrome Alkaptonuria Allain-Babin-Demarquez syndrome Allan-Herndon-Dudley syndrome Allanson-Pantzar-McLeod syndrome ...
*  Corpus callosum
Some syndromes that are often associated with ACC are Aicardi syndrome, Andermann syndrome, Shapiro syndrome, and acrocallosal ... ACC is usually diagnosed within the first two years of life, and may manifest as a severe syndrome in infancy or childhood, as ... See also: Alien hand syndrome Alexia without agraphia (seen with damage to splenium of corpus callosum) Split-brain Septo-optic ... syndrome. ACC is usually not fatal. Treatment usually involves management of symptoms, such as hydrocephaly and seizures, if ...
*  Dysmelia
16.1 microdeletion syndrome Achard syndrome Ackerman syndrome Acrocallosal syndrome Acropectoral syndrome Adams-Oliver syndrome ... syndrome Haas syndrome Hanhart syndrome Holt-Oram syndrome Humeroradial synostosis Johnson-Munson syndrome Joubert syndrome ... Microgastria Myhre syndrome Nager acrofacial dysostosis Neu-Laxova syndrome Patau syndrome Pfeiffer syndrome Poland syndrome ... Phocomelia syndrome) Rubinstein-Taybi syndrome Silver-Russell syndrome Split-hand split-foot malformation (SHFM) TAR syndrome ( ...
*  Webbed toes
... syndrome Acrocallosal syndrome Apert's syndrome Bardet-Biedl syndrome Carpenter syndrome Cornelia de Lange syndrome Edwards ... syndrome Jackson-Weiss syndrome Fetal hydantoin syndrome Miller syndrome Pfeiffer syndrome Smith-Lemli-Opitz syndrome Timothy ... If other symptoms are present, a specific syndrome may be indicated.[citation needed] Diagnosis of a specific syndrome is based ... Webbed toes occur most commonly in the following circumstances: Syndactyly or Familial Syndactyly Down syndrome It is also ...
Acrocallosal syndrome - Wikipedia  Acrocallosal syndrome - Wikipedia
... rarediseases.info.nih.gov/gard/5721/acrocallosal-syndrome-schinzel-type/resources/1 Acrocallosal syndrome, Schinzel type at ... The syndrome was first described by Albert Schinzel in 1979. It is associated with GLI3. Acrocallosal syndrome (ACLS, ACS, ... Acrocallosal syndrome (also known as ACLS) is a rare autosomal recessive syndrome characterized by corpus callosum agenesis, ... Elson E.; Perveen R.; Donnai D.; Wall S.; Black G.C.M. (2002). "De novo GLI3 mutation in acrocallosal syndrome:broadening the ...
more infohttps://en.wikipedia.org/wiki/Acrocallosal_syndrome
Acrocallosal Syndrome OMIM# 200990 - Genomics Collaborative  Acrocallosal Syndrome OMIM# 200990 - Genomics Collaborative
... www.genomicscollaborative.com/wp-content/uploads/2018/02/Acrocallosal-Syndrome-OMIM-200990-FBF.mp4. ... is the most comprehensive resource for photos and information about syndromes, genes and clinical phenotypes. ...
more infohttp://genomicscollaborative.com/discovery/acrocallosal-syndrome-omim-200990/
Outcomes of planned home births with certified professional midwives: large prospective study in North America | The BMJ  Outcomes of planned home births with certified professional midwives: large prospective study in North America | The BMJ
Acrocallosal syndrome. Trisomy 13 Other causes (n = 6):. Term pregnancy, average labour. Apgar scores 6/2. Transported ... Sudden infant death syndrome. Post-term pregnancy, 42 weeks two days age based on clinical data as mother not aware of last ... Died at five days in hospital, sudden infant death syndrome. Term pregnancy, transport at first assessment because of ...
more infohttps://www.bmj.com/content/330/7505/1416.full?rss=
Outcomes of planned home births with certified professional midwives: large prospective study in North America | The BMJ  Outcomes of planned home births with certified professional midwives: large prospective study in North America | The BMJ
Acrocallosal syndrome. Trisomy 13 Other causes (n = 6):. Term pregnancy, average labour. Apgar scores 6/2. Transported ... Sudden infant death syndrome. Post-term pregnancy, 42 weeks two days age based on clinical data as mother not aware of last ... Died at five days in hospital, sudden infant death syndrome. Term pregnancy, transport at first assessment because of ...
more infohttps://www.bmj.com/content/330/7505/1416?ehom
Horowitz MA[au] - PubMed - NCBI  Horowitz MA[au] - PubMed - NCBI
Acrocallosal syndrome: additional manifestations.. Casamassima AC, Beneck D, Gewitz MH, Horowitz MA, Woolf PK, Pettersen IM, ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Horowitz+MA%5Bau%5D&dispmax=50
Gait disorder and Loss of balance and Optic atrophy - Symptom Checker - check medical symptoms at RightDiagnosis  Gait disorder and Loss of balance and Optic atrophy - Symptom Checker - check medical symptoms at RightDiagnosis
6. Achalasia -- adrenal -- alacrima syndrome. 7. Ackerman syndrome. 8. Acoustic neuroma. 9. Acrocallosal Syndrome (Schinzel ... 3. Absence of septum pellucidum with porencephalia syndrome. 4. Acanthamoeba infection. 5. Acanthamoeba infection of the ...
more infohttp://wrongdiagnosis.com/cosymptoms/gait-disorders/loss-of-balance/optic-atrophy.htm
Blood vessel symptoms and Dacryoadenitis - Symptom Checker - check medical symptoms at RightDiagnosis  Blood vessel symptoms and Dacryoadenitis - Symptom Checker - check medical symptoms at RightDiagnosis
4. Acrocallosal Syndrome (Schinzel Type). 5. Adrenal Cancer. 6. Adrenal Cortex Neoplasms. 7. Adrenal adenoma, familial. 8. ... Vessel syndrome *more symptoms...» Broaden Your Search: Remove a Symptom. *REMOVE Blood vessel symptoms ...
more infohttps://wrongdiagnosis.com/cosymptoms/blood-vessel-symptoms/dacryoadenitis.htm
A - Health Conditions - Genetics Home Reference - NIH  A - Health Conditions - Genetics Home Reference - NIH
Acrocallosal syndrome. *acrocephalopolysyndactyly 2, see Carpenter syndrome. *acrocephalopolysyndactyly type II, see Carpenter ... Albright hereditary osteodystrophy-like syndrome, see 2q37 deletion syndrome. *Albright syndrome, see McCune-Albright syndrome ... Albright's syndrome with precocious puberty, see McCune-Albright syndrome. *Albright-McCune-Sternberg syndrome, see McCune- ... action myoclonus-renal failure syndrome, see Action myoclonus-renal failure syndrome. *Action myoclonus-renal failure syndrome ...
more infohttps://ghr.nlm.nih.gov/condition
nature.com search  nature.com search
Rights & permissionsfor article ,i,KIF7,/i, mutations cause fetal hydrolethalus and acrocallosal syndromes . Opens in a new ... The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome *Marion ... Rights & permissionsfor article The ciliary gene ,i,RPGRIP1L,/i, is mutated in cerebello-oculo-renal syndrome (Joubert syndrome ...
more infohttps://www.nature.com/search?author=%22F%C3%A9recht%C3%A9%20Encha-Razavi%22&error=cookies_not_supported&code=a098ade6-3bf9-42ab-9f4c-bae7f2dae707
Mouth symptoms - RightDiagnosis.com  Mouth symptoms - RightDiagnosis.com
Acrocallosal syndrome ... short philtrum*Acrocallosal Syndrome (Schinzel Type) ... cleft palate, cleft lip* ... Aarskog-Ose-Pande syndrome ... delayed tooth eruption*Aase Smith syndrome ... cleft lip*Aase Syndrome ... Cleft lip*Aase-Smith ... Bamforth syndrome ... small jaw, cleft palate*Banti Syndrome ... blood in vomit*Banti's syndrome ... blood in vomit*Baraitser- ... Alpine syndrome ... vomiting*Alport Syndrome ... thin upper lip, cough, small lower jaw, highly arched palate*Alport syndrome ...
more infohttps://www.rightdiagnosis.com/sym/mouth_symptoms.htm
Malformed ears - RightDiagnosis.com  Malformed ears - RightDiagnosis.com
8p-Syndrome, partial - malformed ears *Acrocallosal syndrome - malformed ears *Acrorenal mandibular syndrome - malformed ears * ... Down's syndrome *Turner syndrome *Treacher-Collins syndrome *Edward's syndrome *Rubinstein-Taybi syndrome *Smith-Lemli-Opitz ... Turner syndrome *Treacher-Collins syndrome *Edward's syndrome *Rubinstein-Taybi syndrome *Smith-Lemli-Opitz syndrome *Beckwith- ... Down's syndrome, Turner syndrome, Treacher-Collins syndrome, Edward's syndrome, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz ...
more infohttps://www.rightdiagnosis.com/sym/malformed_ears.htm
Winey M[au] - PubMed - NCBI  Winey M[au] - PubMed - NCBI
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.. Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G ...
more infohttps://www.ncbi.nlm.nih.gov/pubmed?cmd=search&term=Winey+M%5Bau%5D&dispmax=50
Developmental Disabilities: MedlinePlus  Developmental Disabilities: MedlinePlus
Genetics Home Reference: acrocallosal syndrome (National Library of Medicine) * Genetics Home Reference: ADNP syndrome ( ... Learning about Cri du Chat Syndrome (National Human Genome Research Institute) * Williams Syndrome (National Institute of ... Genetics Home Reference: Cohen syndrome (National Library of Medicine) * Genetics Home Reference: Cornelia de Lange syndrome ( ... Genetics Home Reference: Costello syndrome (National Library of Medicine) * Genetics Home Reference: cri-du-chat syndrome ( ...
more infohttps://medlineplus.gov/developmentaldisabilities.html
Pallister-Hall Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials  Pallister-Hall Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
acrocallosal syndrome 10.2. GLI3 KIF7 24. polydactyly, preaxial iv 10.1. 25. renal hypodysplasia/aplasia 1 10.1. ... MalaCards integrated aliases for Pallister-Hall Syndrome:. Name: Pallister-Hall Syndrome 53 12 23 49 24 71 36 28 13 51 41 14 69 ... MalaCards organs/tissues related to Pallister-Hall Syndrome:. 38 Pituitary, Kidney, Skin, Brain, Heart, Testes, Thyroid ... Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis. ( 10945658 ) ...
more infohttp://www.malacards.org/card/pallister_hall_syndrome
Page 194 - 30917 ASHG Complete  Page 194 - 30917 ASHG Complete
... syndromes.,S.,Thomas,,A.,Putoux,,K.,L.,M.,Coene,,E.,Davis,,Y.,Alanay,,G.,Ogur,,Munnich,,V.,Cormier-Daire,,R.,Hennekam,,Colin,,N ... hydrolethalus and acrocallosal syndromes. S. Thomas, A. Putoux, K. L. M. Coene, E. E. Davis, Y. Alanay, G. Ogur, ...
more infohttp://www.ashg.org/2011meeting/program_guide/files/assets/seo/page195.html
Anencephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials  Anencephaly disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
acrocallosal syndrome 11.1. 12. hydrolethalus syndrome 2 10.9. 13. vangl1-related neural tube defect 10.8. ... Discordant anencephaly and Cantrell syndrome in monozygotic twins conceived by ICSI and IVF-ET. ( 23915871 ) ... Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome? ( ... A review of the craniofacial teratoma syndrome. ( 25360518 ) ... EP01.10: Amniotic band syndrome mimicking isolated anencephaly ...
more infohttp://www.malacards.org/card/anencephaly
Journal of Dentistry for Children: Ingenta Connect Table Of Contents  Journal of Dentistry for Children: Ingenta Connect Table Of Contents
Acrocallosal Syndrome: A Case Report and Literature Survey pp. 170-177(8) Authors: Hodgson, Brian D.; Davies, Lindsey; Gonzalez ...
more infohttps://www.ingentaconnect.com/content/aapd/jodc/2009/00000076/00000002
National Organization of Disorders of the Corpus Callosum  National Organization of Disorders of the Corpus Callosum » National...  National Organization of Disorders of the Corpus Callosum National Organization of Disorders of the Corpus Callosum » National...
Acrocallosal Syndrome: genetic disorder in which individuals have large heads, agenesis of the corpus callosum, and finger and ... Aicardi Syndrome: a genetic syndrome in which girls have agenesis of the corpus callosum, as well as eye and other brain ... Fetal Alcohol Syndrome: medical condition in which a fetus is exposed to alcohol and subsequently exhibits a pattern of unusual ... Andermann Syndrome: a condition in which individuals (almost exclusively found in the certain part of Quebec) have agenesis of ...
more infohttps://nodcc.org/corpus-callosum-disorders/glossary/
Health Library - North Kansas City Hospital, North Kansas City, MO  Health Library - North Kansas City Hospital, North Kansas City, MO
Schinzel Acrocallosal Syndrome National Organization for Rare Disorders * Schinzel Giedion Syndrome National Organization for ... Shwachman-Diamond-Oski Syndrome National Organization for Rare Disorders * Shy-Drager syndrome (SDS) National Organization for ... Smith Lemli Opitz Syndrome National Organization for Rare Disorders * Smith Magenis Syndrome National Organization for Rare ... Stickler Syndrome Type III National Organization for Rare Disorders * Stiff Person Syndrome National Organization for Rare ...
more infohttps://www.nkch.org/patients-visitors/health-library/?prefix=S
Full text] Prescreening whole exome sequencing results from patients with retinal | OPTH  Full text] Prescreening whole exome sequencing results from patients with retinal | OPTH
... hydrolethalus syndrome, acrocallosal syndrome, Meckel-Gruber syndrome, and Bardet-Biedl syndrome (BBS).19 Both variants in the ... Bardet-Biedl syndrome, Meckel syndrome, and Senior-Loken syndrome.15,16 We found a novel splice site mutation in CEP290 in one ... Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. J Med Genet. 2012;49(11):713-720. ... Characterization of usher syndrome type I gene mutations in an usher syndrome patient population. Hum Genet. 2005;116(4):292- ...
more infohttps://www.dovepress.com/prescreening-whole-exome-sequencing-results-from-patients-with-retinal-peer-reviewed-fulltext-article-OPTH
Protocols and Video Articles Authored by Erica E. Davis (Translated to Turkish)  Protocols and Video Articles Authored by Erica E. Davis (Translated to Turkish)
KIF7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes Nature Genetics. Jun, 2011 , Pubmed ID: 21552264 KIF7, the ... Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ... HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we ... Jul, 2010 , Pubmed ID: 20512146 Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. ...
more infohttps://www.jove.com/author/Erica+E._Davis?language=Turkish
Protocols and Video Articles Authored by Erica E. Davis (Translated to French)  Protocols and Video Articles Authored by Erica E. Davis (Translated to French)
KIF7 Mutations Cause Fetal Hydrolethalus and Acrocallosal Syndromes Nature Genetics. Jun, 2011 , Pubmed ID: 21552264 KIF7, the ... Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ... HSCR also presents in various syndromes, including Shah-Waardenburg syndrome (WS), Down (DS), and Bardet-Biedl (BBS). Here, we ... Jul, 2010 , Pubmed ID: 20512146 Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. ...
more infohttps://www.jove.com/author/Erica+E._Davis?language=French
Anti-Gli3 antibody (ab69838) | Abcam  Anti-Gli3 antibody (ab69838) | Abcam
Defects in GLI3 are the cause of acrocallosal syndrome (ACS) [MIM:200990]; also abbreviated ACLS. ACS is characterized by ... Defects in GLI3 are a cause of Pallister-Hall syndrome (PHS) [MIM:146510]. PHS is characterized by a wide range of clinical ... Defects in GLI3 are the cause of Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]. GCPS is an autosomal dominant ...
more infohttp://www.abcam.com/Gli3-antibody-ab69838.html
List of OMIM disorder codes - Wikipedia  List of OMIM disorder codes - Wikipedia
CNGB3 Acrocallosal syndrome; 200990; GLI3 Acrocapitofemoral dysplasia; 607778; IHH Acrodermatitis enteropathica; 201100; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
more infohttps://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
S.F.R - Structure Fédérative de Recherche  S.F.R - Structure Fédérative de Recherche
Putoux A et al.KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet. 2011 Jun. ...
more infohttp://www.necker.fr/sfr-necker/index.php?menu=platforms&lang=uk&faculty_id=8&partner_id=9&sendmail=1
  • It has also been reported that there are many similar signs and symptoms between ACLS, Greig cephalopolysyndactyly, and Hydrolethalus Syndrome (HLS), although there is little evidence to support common genetic causation at this point . (wikipedia.org)
  • Inheritance is autosomal dominant, however, in about a quarter of cases Pallister-Hall syndrome results from a new (de novo) mutation. (malacards.org)
  • The heterogeneity of this condition refers to the multiple genes that may function to contribute to varying degrees of this syndrome and is often linked to consanguinity [2, (wikipedia.org)
  • Born out of decades of research and data collection, London Medical Databases (LMD) is the most comprehensive resource for photos and information about syndromes, genes and clinical phenotypes. (genomicscollaborative.com)
  • An important gene associated with Pallister-Hall Syndrome is GLI3 (GLI Family Zinc Finger 3), and among its related pathways/superpathways are Hedgehog signaling pathway and Pathways in cancer . (malacards.org)
  • 49 Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. (malacards.org)
  • citation needed] Diagnosis of a specific syndrome is based on family history, medical history, and a physical exam. (wikipedia.org)